Class Notes

MUTATION
A MUTATION OCCURS WHEN A DNA GENE IS DAMAGED OR CHANGED IN SUCH A WAY AS TO
ALTER THE GENETIC MESSAGE CARRIED BY THAT GENE.
IN OTHER WORDS A CHANGE IN THE SEQUENCE OF BASES IN DNA OR RNA IS CALLED A
MUTATION.

A MUTAGEN IS AN AGENT OF SUBSTANCE THAT CAN BRING ABOUT A PERMANENT ALTERATION

TO THE PHYSICAL COMPOSITION OF A DNA GENE SUCH THAT THE GENETIC MESSAGE IS
CHANGED.

ONCE THE GENE HAS BEEN DAMAGED OR CHANGED THE MRNA TRANSCRIBED FROM THAT
GENE WILL NOW CARRY AN ALTERED MESSAGE.

THE POLYPEPTIDE MADE BY TRANSLATING THE ALTERED MRNA WILL NOW CONTAIN A
DIFFERENT SEQUENCE OF AMINO ACIDS. THE FUNCTION OF THE PROTEIN MADE BY FOLDING
THIS POLYPEPTIDE WILL PROBABLY BE CHANGED OR [Link] SUBTLE OR VERY OBVIOUS WAYS,
THE PHENOTYPE OF THE ORGANISM CARRYING THE MUTATION WILL BE CHANGED. IN THIS
CASE THE FLOWER, WITHOUT THE PIGMENT IS NO LONGER RED.

MUTATIONS ARE ESSENTIAL FOR EVOLUTION TO OCCUR. THEY ARE THE ULTIMATE SOURCE OF
ALL NEW GENETIC MATERIAL - NEW ALLELES - IN A SPECIES. ALTHOUGH MOST MUTATIONS
HAVE NO EFFECT ON THE ORGANISMS IN WHICH THEY OCCUR, SOME MUTATIONS ARE
BENEFICIAL. WHILE SOME ARE HARMFUL

TYPES OF MUTATIONS
THERE ARE A TYPES OF CLASSIFICATION OF MUTATIONS.

A.​FIRST MAJOR CLASSIFICATION IS GENE MUTATION AND

CHROMOSOMAL MUTATION
●​ GENE MUTATION :
A GENE MUTATION IS DEFINED AS AN ALTERATION IN THE SEQUENCE OF NUCLEOTIDES
IN DNA segment related to a gene . THIS CHANGE CAN AFFECT A SINGLE NUCLEOTIDE PAIR
OR LARGER GENE SEGMENTS OF A CHROMOSOME. ALTERING NUCLEOTIDE SEQUENCES
MOST OFTEN RESULTS IN NON FUNCTIONING PROTEINS. MUTATIONS CAUSE CHANGES
IN THE GENETIC CODE THAT LEAD TO GENETIC VARIATION AND A VARIETY OF EFFECTS.
GENE MUTATIONS CAN BE GENERALLY CATEGORIZED INTO TWO TYPES:
a) POINT MUTATIONS AND
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b) FRAMESHIFT MUTATIONS

●​ CHROMOSOMAL MUTATION:

A CHROMOSOMAL MUTATION IS THE MUTATION OF THE CHROMOSOMAL SEGMENTS OF

THE DNA STRANDS. THIS CAN OCCUR WHEN THE NUMBER OF CHROMOSOMES OR
CHROMOSOME SETS (PLOIDY) INCREASES OR DECREASES IN A GENOME AS WELL AS
WHEN CHANGES IN CHROMOSOME STRUCTURE (CHROMOSOMAL ABERRATION) OCCUR.
IRREGULARITIES OR ACCIDENTS WHEN CELL DIVISION HAPPENS AS WELL AS DURING
CHROMOSOMAL CROSSING OVER OR FERTILIZATION CAN ALL BE CAUSES OF
CHROMOSOMAL MUTATION.

ALL TYPES OF CHROMOSOMES CAN UNDERGO CHROMOSOMAL MUTATION. CHROMOSOMAL

MUTATION IS OF FOLLOWING TYPES:

01.​ CHROMOSOME DELETION,

02.​ DUPLICATION,
03.​ INVERSION, AND
04.​ TRANSLOCATION.

THESE ARE KNOWN TO CAUSE DIFFERENT KINDS OF GENETIC AND CHROMOSOMAL

MUTATION DISEASES.

B. SECOND MAJOR CATEGORIES OF MUTATIONS ARE GERMLINE MUTATIONS AND SOMATIC

MUTATIONS.

●​ GERMLINE MUTATIONS OCCUR IN GAMETES. THESE MUTATIONS ARE ESPECIALLY

SIGNIFICANT BECAUSE THEY CAN BE TRANSMITTED TO OFFSPRING AND EVERY CELL IN
THE OFFSPRING WILL HAVE THE MUTATION.
●​ SOMATIC MUTATIONS OCCUR IN OTHER CELLS OF THE BODY. THESE MUTATIONS MAY
HAVE LITTLE EFFECT ON THE ORGANISM BECAUSE THEY ARE CONFINED TO JUST ONE
CELL AND ITS DAUGHTER CELLS. SOMATIC MUTATIONS CANNOT BE PASSED ON TO
OFFSPRING.

C. THIRD MAJOR CATEGORY OF MUTATIONS IS SPONTANEOUS MUTATIONS AND INDUCED

MUTATIONS
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●​ SPONTANEOUS MUTATIONS : THE APPEARANCE OF A NEW MUTATION IS A RARE EVENT.

MOST MUTATIONS THAT WERE ORIGINALLY STUDIED OCCURRED SPONTANEOUSLY. THIS
CLASS OF MUTATION IS TERMED SPONTANEOUS MUTATIONS.
●​ INDUCED MUTATIONS : WHEN NEW MUTATIONS WERE CREATED BY SCIENT ISTS BY
TREATING AN ORGANISM WITH A MUTAGENIZING AGENT. THESE MUTATIONS ARE
CALLED INDUCED MUTATIONS.

D. FOURTH MAJOR CATEGORY OF MUTATION IS DOMINANT AND RECESSIVE

●​ DOMINANT : “DOMINANT” MEANS THAT A SINGLE COPY OF THE MUTATED GENE (FROM
ONE PARENT) IS ENOUGH TO CAUSE THE DISORDER. A CHILD OF A PERSON AFFECTED
BY AN AUTOSOMAL DOMINANT CONDITION HAS A 50% CHANCE OF BEING AFFECTED
BY THAT CONDITION VIA INHERITANCE OF A DOMINANT ALLELE.

EG. HUNTINGTON’S DISEASE IS AN EXAMPLE OF AN AUTOSOMAL DOMINANT GENETIC

DISORDER.

●​ RECESSIVE : RECESSIVE MUTATION REQUIRES BOTH COPIES OF THE MUTATED GENE

(ONE FROM EACH PARENT) TO EXPRESS THE CHANGE.

MUTATIONS ALSO DIFFER IN THE WAY THAT THE GENETIC MATERIAL IS CHANGED. MUTATIONS
MAY CHANGE THE STRUCTURE OF A CHROMOSOME OR JUST CHANGE A SINGLE NUCLEOTIDE.

TWO MAJOR TYPES OF GENE MUTATION

I.​ POINT MUTATIONS

A POINT MUTATION IS A CHANGE IN A SINGLE NUCLEOTIDE of a gene IN DNA. THIS TYPE OF
MUTATION IS USUALLY LESS SERIOUS THAN A CHROMOSOMAL ALTERATION. AN EXAMPLE OF A
POINT MUTATION IS A MUTATION THAT CHANGES THE CODON UUU TO THE CODON UCU. POINT
MUTATIONS CAN BE

●​ SILENT,
●​ MISSENSE,
●​ OR NONSENSE MUTATIONS,

THE EFFECTS OF POINT MUTATIONS DEPEND ON HOW THEY CHANGE THE GENETIC CODE.
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TYPE DESCRIPTION EXAMPLE EFFECT

MUTATED CODON CAA

CODES FOR THE (GLUTAMINE) →
SILENT NONE
SAME AMINO CAG
ACID (GLUTAMINE)

MUTATED CODON
CAA
CODES FOR A
MISSENSE (GLUTAMINE) → VARIABLE
DIFFERENT
CCA (PROLINE)
AMINO ACID

MUTATED CODON CAA

USUALLY
NONSENSE IS A PREMATURE (GLUTAMINE) →
SERIOUS
STOP CODON UAA (STOP)

II. FRAMESHIFT MUTATIONS

A FRAMESHIFT MUTATION IS A DELETION, INSERTION OR ADDITION AND SUBSTITUTION OF
ONE OR MORE NUCLEOTIDES THAT CHANGES THE READING FRAME OF THE BASE SEQUENCE.

❖​ DELETIONS REMOVE NUCLEOTIDES,

❖​ INSERTIONS ADD NUCLEOTIDES
❖​ SUBSTITUTION REPLACES NUCLEOTIDES

CONSIDER THE FOLLOWING SEQUENCE OF BASES IN RNA:

AUG-AAU-ACG-GCU = START-ASPARAGINE-THREONINE-ALANINE

NOW, ASSUME AN INSERTION OCCURS IN THIS SEQUENCE. LET’S SAY AN A NUCLEOTIDE IS

INSERTED AFTER THE START CODON AUG:

AUG-AAA-UAC-GGC-U = START-LYSINE-TYROSINE-GLYCINE

EVEN THOUGH THE REST OF THE SEQUENCE IS UNCHANGED, THIS INSERTION CHANGES THE
READING FRAME AND THUS ALL OF THE CODONS THAT FOLLOW IT. AS THIS EXAMPLE SHOWS,
A FRAMESHIFT MUTATION CAN DRAMATICALLY CHANGE HOW THE CODONS IN MRNA ARE
READ. THIS CAN HAVE A DRASTIC EFFECT ON THE PROTEIN PRODUCT.
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TYPES OF CHROMOSOMAL MUTATIONS

I. PLOIDY MUTATIONS:

THE NUMBER OF SETS OF CHROMOSOMES IN A CELL OR AN ORGANISM.

FOR EXAMPLE, HAPLOID MEANS ONE SET AND DIPLOID MEANS TWO SETS
●​ THUS PLOIDY IS THE NUMBER OF COMPLETE SETS OF CHROMOSOMES IN A CELL,
AND HENCE THE NUMBER OF POSSIBLE ALLELES FOR AUTOSOMAL AND PSEUDO
AUTOSOMAL GENES.
●​ SETS OF CHROMOSOMES REFER TO THE NUMBER OF MATERNAL AND PATERNAL
CHROMOSOME COPIES, RESPECTIVELY, IN EACH HOMOLOGOUS CHROMOSOME PAIR,
WHICH CHROMOSOMES NATURALLY EXIST AS

➔​ EUPLOIDY REFERS TO THE CHANGE IN THE COMPLETE SET OF CHROMOSOMES, I.E.

LOSS OR GAIN OF THE FULL SET OF CHROMOSOMES. IT MOSTLY OCCURS IN PLANTS.
EXAMPLES ARE HAPLOID (N, ONLY ONE SET OF CHROMOSOMES), TRIPLOID (3N),
HEXAPLOID (6N). MOSTLY HIGHER PLANTS AND ANIMALS ARE DIPLOID, I.E. THEY
CONTAIN TWO SETS OF CHROMOSOMES, ONE FROM EACH PARENT.
➔​ ANEUPLOIDY REFERS TO THE GAIN AND LOSS OF ONE OR TWO CHROMOSOMES, E.G.
❖​ MONOSOMY (2N-1),
❖​ TRISOMY (2N+1),
❖​ NULLISOMY (2N-2).

ANEUPLOIDY IS DUE TO THE NONDISJUNCTION OF CHROMOSOMES AT THE TIME OF CELL

DIVISION AND ACCOUNTS FOR VARIOUS CHROMOSOMAL DISORDERS.

EXAMPLES OF ANEUPLOIDY INCLUDE MONOSOMY- TURNER SYNDROME, TRISOMY- DOWN

SYNDROME, KLINEFELTER SYNDROME, ETC.

➔​ POLYPLOIDY IS A TYPE OF EUPLOIDY POLYPLOIDY, THE CONDITION IN WHICH A

NORMALLY DIPLOID CELL OR ORGANISM ACQUIRES ONE OR MORE ADDITIONAL SETS
OF CHROMOSOMES. IN OTHER WORDS, THE POLYPLOID CELL OR ORGANISM HAS THREE
OR MORE TIMES THE HAPLOID CHROMOSOME NUMBER.

II. CHROMOSOMAL ALTERATIONS

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ARE MUTATIONS THAT CHANGE CHROMOSOME STRUCTURE. THEY OCCUR WHEN A SECTION OF
A CHROMOSOME BREAKS OFF AND REJOINS INCORRECTLY OR DOES NOT REJOIN AT ALL.

●​ THE ARRANGEMENT AND PRESENCE OF MANY GENES ON A SINGLE CHROMOSOME

PROVIDES A CHANGE IN GENETIC INFORMATION NOT ONLY THROUGH CHANGE IN
CHROMOSOME NUMBER BUT ALSO BY A CHANGE IN CHROMOSOME STRUCTURE.
●​ THE CHANGE IN CHROMOSOME IS DUE TO ALTERATION IN GENETIC MATERIAL
THROUGH LOSS, GAIN OR REARRANGEMENT OF A PARTICULAR SEGMENT. SUCH
CHANGES ARE CALLED CHROMOSOMAL ABERRATIONS.
●​ THE MODIFICATION BRINGS ABOUT CHROMOSOMAL MUTATIONS.
●​ THE STRUCTURAL CHANGES IN CHROMOSOMES ARE DUE TO BREAKS IN CHROMOSOME,
OR IN ITS CELL DIVISION SUBUNIT, I.E., CHROMATID.

CHROMOSOMAL ABERRATIONS ARE OF 4 MAJOR TYPES:

(A) DELETION
(B) DUPLICATION
(C) INVERSION AND
(D) TRANSLOCATION

A)​ DELETION OR DEFICIENCY: DELETION OR DEFICIENCY AS THE NAME SUGGESTS THERE IS A

LOSS OF SEGMENT OF CHROMOSOME. AFTER BREAK THE PART WITHOUT CENTROMERE IS
LOST. ON THE OTHER HAND THE PART ATTACHED TO THE CENTROMERE ACTS AS DEFICIENT
CHROMOSOME.
●​ TERMINAL DELETION: A SINGLE BREAK NEAR THE END OF THE CHROMOSOME.
DESCRIBED IN MAIZE BUT OTHERWISE NOT COMMON.
●​ INTERSTITIAL DELETION: CHROMOSOME BREAKS AND REUNITES BUT THE
PART IS LOST FROM IN BETWEEN
EG: PARTIAL DELETION OF CHROMOSOME 5 RESULTS IN CRI-DU-CHAT SYNDROME,
CHILDREN CRY LIKE CAT, THEY HAVE SMALL HEAD AND ARE MENTALLY RETARDED
B) DUPLICATION: HERE A SEGMENT OF CHROMOSOME IS REPEATED TWICE, I.E., DUPLICATED.

C) TRANSLOCATION: TRANSFER OF A SECTION OF ONE CHROMOSOME TO NON-HOMOLOGOUS

CHROMOSOME IS KNOWN AS TRANSLOCATION. WHEN THERE IS EXCHANGE OF SEGMENTS ON
TWO NON-HOMOLOGOUS CHROMOSOMES IT IS CALLED RECIPROCAL TRANSLOCATION. IT ALSO
INCLUDES EXCHANGE OF SEGMENTS BETWEEN NON HOMOLOGOUS PARTS OF A PAIR OF
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CHROMOSOMES, E.G., ‘X’ OR ‘Y’ CHROMOSOMES. THE SEGMENT IS NEITHER LOST NOR ADDED ,
IT IS JUST EXCHANGED.

(D) INVERSIONS: A SECTION OF THE CHROMOSOME BECOMES CHANGED BY ROTATION AT 180°

IS CALLED INVERSION. THE ORDER OF THE GENES IN IT ARE REVERSED. INVERSION ARISES BY
THE FORMATION OF LOOPS ON A CHROMOSOME. BREAKS MAY OCCUR AT THE POINT OF
INTERSECTION OF THE LOOPS. REUNION OF THE BROKEN ENDS TAKES PLACE IN A NEW
COMBINATION, AND INVERTS.
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SEX DETERMINATION
AFTER MULTIPLE STUDIES ON DIFFERENT INSECTS, HENKINGS IN 1891 , IDENTIFIED SPECIFIC
BODIES IN THE NUCLEUS OF CELLS .
●​ HE NOTICED THAT ONLY 50% OF CELLS RECEIVED THESE SPECIFIC BODIES WHICH HE
NAMED “X”.
●​ IT WAS LATER UNDERSTOOD THAT X BODY IS A CHROMOSOME, WHICH DETERMINED
SEX BY ITS PRESENCE.
➢​ FEMALE INSECTS HAVE 2 X CHROMOSOMES (XX)
➢​ BUT MALES POSSESS ONLY 1 X CHROMOSOMES (XO)

CHROMOSOMES ARE OF 2 TYPES :

A)​ AUTOSOMES -
THE CHROMOSOMES THAT DETERMINE THE SOMATIC CHARACTERS
(REGARDING SHAPE AND FORM) LIKE COMPLEXION , HAIR, EYE COLOR, ETC.
●​ 44 CHROMOSOMES / 22 PAIRS
●​ HOMOZYGOUS OR SIMILAR LOOKING PAIRS

B)​ALLOSOMES/ SEX CHROMOSOMES -

TWO TYPES- X AND Y
DIFFER IN SHAPE AND SIZE, GENETIC CONSTITUTION
X IS ROD SHAPED
Y IS HOOK SHAPED
FEMALE GENOTYPE - XX (HOMOLOGOUS - homogametic)
MALE GENOTYPE - XY (HETEROLOGOUS - heterogametic)
X and Y chromosomes
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Sex determination in human

50% PROBABILITY FOR EITHER SEX

●​ THE FEMALE EGG OR OVUM CONSISTS 22A+ X (THIS IS FIXED)

●​ THE MALE EGG OR SPERM CONSISTS EITHER 22A+ X OR 22A+Y (ANY ONE )
●​ SEX DETERMINATION DEPENDS ON TYPE OF SPERM MATING WITH THE
EGG
THE SEX PERTAINING GENOTYPE OF THE OFFSPRING DEPENDS ON THE
GAMETIC CONSTITUTION OF THE SPERM

IN SOME ANIMALS AND BIRDS , THE FEMALES ARE HETEROGAMOUS (ZZ-ZW)

WHILE THE MALES ARE HOMOGAMOUS WITH 2 CHROMOSOMES( ZZ)

SEX LINKAGE
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SEX LINKAGE REFERS TO WHEN A GENE CONTROLLING A CHARACTERISTIC IS

LOCATED ON A SEX CHROMOSOME (X OR Y)

●​ THE Y CHROMOSOME IS MUCH SHORTER THAN THE X CHROMOSOME

AND CONTAINS ONLY A FEW GENES (50 MILLION BP; 78 GENES)
●​ THE X CHROMOSOME IS LONGER AND CONTAINS MANY GENES NOT
PRESENT ON THE Y CHROMOSOMES (153 MILLION BP ; ~ 2,000 GENES)
●​ HENCE, SEX-LINKED CONDITIONS ARE USUALLY X-LINKED - AS VERY
FEW GENES EXIST ON THE SHORTER Y CHROMOSOME

THE PATTERN OF INHERITANCE IS DIFFERENT WITH SEX-LINKED GENES DUE

TO THEIR LOCATION ON SEX CHROMOSOMES

A. SEX LINKED INHERITANCE

●​ SEX-LINKED INHERITANCE PATTERNS DIFFER FROM AUTOSOMAL
PATTERNS DUE TO THE FACT THAT THE CHROMOSOMES AREN’T PAIRED
IN MALES (XY)
●​ THIS LEADS TO THE EXPRESSION OF SEX-LINKED TRAITS BEING
PREDOMINANTLY ASSOCIATED WITH A PARTICULARLY GENDER
●​ AS HUMAN FEMALES HAVE TWO X CHROMOSOMES (AND THEREFORE
TWO ALLELES), THEY CAN BE EITHER HOMOZYGOUS OR HETEROZYGOUS
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●​ HENCE, X-LINKED DOMINANT TRAITS ARE MORE COMMON IN FEMALES

(AS EITHER ALLELE MAY BE DOMINANT AND CAUSE DISEASE)
●​ HUMAN MALES HAVE ONLY ONE X CHROMOSOME (AND THEREFORE
ONLY ONE ALLELE) AND ARE HEMIZYGOUS FOR X-LINKED TRAITS
●​ X-LINKED RECESSIVE TRAITS ARE MORE COMMON IN MALES, AS THE
CONDITION CANNOT BE MASKED BY A SECOND ALLELE

THE FOLLOWING TRENDS ALWAYS HOLD TRUE FOR X-LINKED CONDITIONS:

●​ ONLY FEMALES CAN BE CARRIERS (A HETEROZYGOTE FOR A RECESSIVE
DISEASE CONDITION), MALES CANNOT BE HETEROZYGOUS CARRIERS
●​ MALES WILL ALWAYS INHERIT AN X-LINKED TRAIT FROM THEIR MOTHER
(THEY INHERIT A Y CHROMOSOME FROM THEIR FATHER)

FEMALES CANNOT INHERIT AN X-LINKED RECESSIVE CONDITION FROM AN

UNAFFECTED FATHER (MUST RECEIVE HIS DOMINANT ALLELE)

The Ishihara Colour Test

EG;
●​ RED GREEN COLOUR BLINDNESS
●​ HEMOPHILIA
●​ DUCHENNE MUSCULAR DYSTROPHY
●​ HAIRY EARS (Y CHROMOSOME)

B. SEX LIMITED INHERITANCE

●​ THE GENES CAN BE FOUND IN BOTH SEXES AND PROBABLY ON THE
●​ AUTOSOMES BUT THEY CAN ONLY BE EXPRESSED IN THE SEX THAT IS
ANATOMICALLY OR PHYSIOLOGICALLY CORRECT.
●​ FOR EXAMPLE, ONLY MALES CAN HAVE PROSTATE CANCER AND ONLY
●​ FEMALES CAN HAVE OVARIAN CANCER, ALTHOUGH BOTH MALES AND
FEMALES CAN CARRY THE GENES FOR THESE CONDITIONS.
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●​ THESE TRAITS WOULD USUALLY INVOLVE PRIMARY OR SECONDARY SEX

TRAITS.

PATTERNS FOR SEX LIMITED INHERITANCE

●​ THESE ARE GENES THAT OCCUR IN BOTH SEXES (PROBABLY ON THE

●​ AUTOSOMES) BUT ARE NORMALLY EXPRESSED ONLY IN THE GENDER
HAVING THE APPROPRIATE HORMONAL DETERMINER (ACTIVATOR).
●​ THROUGHOUT THE PEDIGREE THE TRAIT APPEARS IN ONLY ONE SEX, BUT IT
NEED NOT OCCUR IN ALL MEMBER OF THAT SEX.
●​ THE GENES FOR THE TRAIT CAN BE CARRIED AND TRANSMITTED BY THE
OPPOSITE SEX ALTHOUGH IT IS NOT DISPLAYED IN THAT SEX BECAUSE OF
ANATOMICAL OR PHYSIOLOGICAL DIFFERENCES.
●​ EG:
○​ THE GENES THAT CONTROL MILK YIELD AND QUALITY IN DAIRY
CATTLE, FOR EXAMPLE, ARE PRESENT IN BOTH BULLS AND COWS,
BUT THEIR EFFECTS ARE EXPRESSED ONLY IN THE FEMALE
CATTLE.
○​ BEARD IN MALES
○​ BARRED COLORING IN CHICKENS NORMALLY IS VISIBLE ONLY IN
THE ROOSTERS.
○​ SECONDARY HORMONAL DEVELOPMENT

C. SEX INFLUENCED INHERITANCE

●​ SEX-CONTROLLED CHARACTER, ALSO CALLED SEX-INFLUENCED

CHARACTER, A GENETICALLY CONTROLLED FEATURE THAT MAY APPEAR
IN ORGANISMS OF BOTH SEXES BUT IS EXPRESSED TO A DIFFERENT
DEGREE IN EACH.
●​ SEX-INFLUENCED TRAITS ARE AUTOSOMAL TRAITS THAT ARE
INFLUENCED BY SEX.
●​ THE CHARACTER SEEMS TO ACT AS A DOMINANT IN ONE SEX AND A
RECESSIVE IN THE OTHER.
●​ SEX-INFLUENCED TRAITS ARE AUTOSOMAL TRAITS THAT ARE
INFLUENCED BY SEX.
●​ IF A MALE HAS ONE RECESSIVE ALLELE, HE WILL SHOW THAT TRAIT,
BUT IT WILL TAKE TWO RECESSIVE FOR THE FEMALE TO SHOW THAT
SAME TRAIT. Eg​ ​
○​ MALE PATTERN BALDNESS
○​ LENGTH OF INDEX FINGER
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○​ BODY HAIR
○​ MUSCLE MASS,

MENDELIAN GENETIC
DISORDERS
SEX LINKED DISORDERS

X LINKED RECESSIVE DISORDERS

●​ X-linked recessive inheritance is a way a genetic trait or condition can be passed down
from parent to child through mutations (changes) in a gene on the X chromosome.
●​ In males (who only have one X chromosome), a mutation in the copy of the gene on the
single X chromosome causes the condition.
●​ Females (who have two X chromosomes) must have a mutation on both X chromosomes
in order to be affected with the condition.
●​ If only the father or the mother has the mutated X-linked gene, the daughters are usually
not affected and are called carriers because one of their X chromosomes has the mutation
but the other one is normal.
●​ Sons will be affected if they inherit the mutated X-linked gene from their mother. Fathers
cannot pass X-linked recessive conditions to their sons.
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Patterns of Inheritance
X-linked Dominant
●​ Females more frequently affected
●​ Can have affected males and females in same generation
X-linked Recessive

●​ Males more frequently affected

●​ Affected males often present in each generation

COLOR BLINDNESS
Conditions like color blindness are passed from parents to their children on groups of genes
called chromosomes.
Some of these, called X and Y chromosomes, determine if you are male or female at birth.
Males have 1 X chromosome and 1 Y chromosome, and females have 2 X chromosomes.
The genes that can give you red-green color blindness are passed down on the X
chromosome.
Since it’s passed down on the X chromosome, red-green color blindness is more common in
men. This is because:
The colour blind ‘gene’ is carried on one of the X chromosomes. Since men have only one X
chromosome, if a man’s X chromosome carries the colour blind ‘gene’ (X) he will be colour
blind (XY). A woman can have either:-
(i) two normal X chromosomes, so that she will not be colour blind or be a carrier (XX),
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(ii) or, one normal X and one colour blind carrying X chromosome, in which case she will be a
carrier (XX), or rarely
(iii) she will inherit a colour blind X from her father and a colour blind X from her mother and be
colour blind herself (XX). She will pass on colour blindness to all of her sons if this is the case.
All of her daughters will be carriers

HEAMOPHILIA

●​ Hemophilia is a bleeding disorder that slows the blood clotting process.

●​ People with this condition experience prolonged bleeding or oozing following an injury,
surgery, or having a tooth pulled.
●​ In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even
when there is no obvious injury (sometimes called spontaneous bleeding).
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●​ Serious complications can result from bleeding into the joints, muscles, brain, or other
internal organs.
●​ Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the
condition may not become apparent until abnormal bleeding occurs following surgery or
a serious injury.

CAUSE AND MECHANISM

●​ Variants in the F8 gene cause hemophilia A, while variants in the F9 gene cause
hemophilia B. The F8 gene provides instructions for making a protein called coagulation
factor VIII.
●​ A related protein, coagulation factor IX, is produced from the F9 gene.
●​ Coagulation factors are proteins that work together in the blood clotting process.
●​ After an injury, blood clots protect the body by sealing off damaged blood vessels and
preventing excessive blood loss.

INHERITANCE
●​ Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. The genes
associated with these conditions are located on the X chromosome, which is one of the
two sex chromosomes
(THE PATTERN OF INHERITANCE IS SIMILAR TO THAT OF COLOR
BLINDNESS– PLS REFER THAT)

B. X LINKED DOMINANT DISORDERS

WHAT IS DOMINANT MUTATIONAL DISORDER

●​ Autosomal dominant inheritance is a way a genetic trait or condition
can be passed down from parent to child.
●​ One copy of a mutated (changed) gene from one parent can cause the
genetic condition.
●​ A child who has a parent with the mutated gene has a 50% chance of
inheriting that mutated gene.
●​ Men and women are equally likely to have these mutations and sons
and daughters are equally likely to inherit them.

FRAGILE X SYNDROME
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Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is an inherited condition that
causes

●​ developmental delays,
●​ intellectual disabilities,
●​ learning and behavioral issues,
●​ physical abnormalities,
●​ anxiety,
●​ attention-deficit/hyperactivity disorder and/or autism spectrum disorder, among other
problems. It’s the most common form of inherited intellectual and developmental
disability (IDD).

FXS is named fragile X syndrome because, when looked at through a microscope, part of the X
chromosome looks “broken” or “fragile.”

FXS is one of three syndromes in the fragile X family. The other two syndromes are:

Fragile X-associated tremor/ataxia syndrome (FXTAS). Symptoms include balance

problems, shaky hands, unstable mood, memory loss, cognitive problems and numbness
in the hands and feet.

Fragile X-associated primary ovarian insufficiency (FXPOI). Symptoms include

reduced fertility, infertility, missing or unpredictable menstrual periods and premature
menopause.

Y LINKED DISORDER

NOTE: Y CHROMOSOME HAS ONLY ONE COPY AND IT IS VERY

SMALLER AND CONTAINS LESSER GENES AS COMPARED TO X
CHROMOSOMES
Y chromosome mutations are called “Y-linked” and only affect males since they alone
carry a copy of that chromosome.
Mutations to the relatively small Y chromosome can impact male sexual function and
secondary sex characteristics.
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Y-chromosome infertility is a disorder that affects sperm production, caused by

deletions to the azoospermia factor (AZF) regions of the Y chromosome.
In general, Y-linked disorders are only passed from father to son; however, because
affected males typically do not father children without assisted reproductive technologies,
Y-chromosome infertility is not typically passed on to offspring

MENDELIAN GENETICS
●​ Mendelian Disorders can be defined as a type of genetic disorder that arises due to alterations in one
gene or as a result of abnormalities in the genome.
●​ Such a condition can be seen from birth and be found based on family ancestry utilizing the
genealogical record.

Mendelian Disorders Principle

●​ Mutations that occur in a single gene bring about Mendelian Disorder.

●​ Mendelian disorders are caused due to mutations at a single locus.

●​ Such a condition can be seen from birth and be found based on family ancestry utilizing the
genealogical record.

●​ This can occur either on an autosome or a sex chromosome.

●​ Pedigree analysis of a family that has a history of Mendelian disorder can be performed to
further understand the probability of occurrence in future generations and to identify whether
the trait is dominant or recessive.
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WHAT ARE RECESSIVE MUTATIONAL DISORDERS

❖​ RECESSIVE DISORDER OCCURS WHEN THE MUTATION OCCURS ON THE

RECESSIVE ALLELE
❖​ RECESSIVE ALLELES EXPRESS THEMSELVES ONLY IN THE ABSENCE OF A
DOMINANT ALLELE
❖​ RECESSIVE DISORDER SHOWS SYMPTOMS ONLY WHEN A PERSON HAS
BOTH GENES AFFECTED., THAT IS WHEN BOTH PARENTS PASS ONE
AFFECTED GENE

FOR THIS ONE OF THE FOLLOWING CONDITIONS IS NEEDED

A.​ BOTH PARENTS ARE CARRIERS (HAVING ONE AFFECTED GENE IN EACH
PARENT )

B.​ BOTH PARENTS ARE AFFECTED (BOTH GENES AFFECTED IN EACH

PARENT)
C.​ ONE PARENT IS CARRIER AND ONE PARENT IS AFFECTED
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●​
●​ WHEN THE RECESSIVE DISORDER IS CAUSED BY THE AUTOSOMES THEN IT
IS CALLED AUTOSOMAL RECESSIVE DISORDER .
●​ WHEN THE RECESSIVE DISORDER IS CAUSED BY THE SEX CHROMOSOME /
ALLOSOMES THEN IT IS CALLED SEXLINKED RECESSIVE DISORDER

MENDELIAN AUTOSOMAL GENETIC DISORDER

PATTERN OF INHERITANCE-
Autosomal Dominant
●​ Each affected person has an affected parent

●​ Occurs in every generation

Autosomal Recessive
●​ Both parents of an affected person are carriers

●​ Not typically seen in every generation

AUTOSOMAL RECESSIVE DISORDERS

SICKLE CELL ANAEMIA

●​ Sickle cell anemia is caused by a mutation in a gene? called haemoglobin beta (HBB),
located on chromosome 11.
●​ It is recessive genetic disease, which means that both copies of the gene must contain
the mutation for a person to have sickle cell anaemia.
 22

●​ If an individual has just one copy of the mutated gene they are said to be a carrier? of the
sickle cell trait.
●​ If both parents are carriers there is a chance their child could be born with sickle cell
anaemia.
MUTATIONAL CHANGES
●​ The HBB gene codes for haemoglobin, a protein in red blood cells that carries oxygen
around the body .
●​ A mutation in HBB results in a change in one of the bases in the DNA sequence from an
A to a T.
●​ This then changes the amino acid in the haemoglobin protein from glutamic acid to
valine at the 6th position.
●​ This causes the body to produce a new form of haemoglobin called HbS, which behaves
very differently to regular haemoglobin (HbA) .
●​ HbS causes the red blood cells to develop abnormally and become sickle-shaped (rather
than the usual doughnut shape), harder and less flexible. This means that they can
become stuck in the blood vessels, causing blockages.
Symptoms
●​ The symptoms of sickle cell anaemia vary considerably from person to person.
●​ Pain develops when sickle-shaped red blood cells block the flow of blood to the chest,
abdomen and joints.
●​ These spells of pain are called 'sickle cell crisis' and can last anything from a few
minutes to several months.
●​ Symptoms can have a significant impact on quality of life and can lead to life-threatening
complications such as:
❖​ stroke: where the supply of blood to the brain becomes blocked
❖​ acute chest syndrome: where the lungs suddenly lose their ability to breathe in
oxygen as a result of sickle cells blocking blood vessels in the lungs.
❖​ increased risk of infection: sickle cell anemia can damage the spleen, a key organ
involved in fighting infection.
❖​ pulmonary hypertension: where sickle-shaped red blood cells block the flow of
blood from the heart to the lungs causing the blood pressure in these vessels to
become dangerously high.
❖​ Sudden deterioration may be characterized by: high body temperature of 38˚C or
above
❖​ severe pain that cannot be controlled with pain killers
❖​ difficulty breathing.
 23

Phenylketonuria

●​ Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called
phenylalanine to build up in the body.
●​ .Phenylalanine is found in all proteins and some artificial sweeteners.
●​ Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine
into tyrosine, which your body needs to create neurotransmitters such as epinephrine,
norepinephrine, and dopamine.
●​ PKU is caused by a defect in the PAH gene that helps create phenylalanine hydroxylase.
Due to the absence of enzyme, body can’t break down phenylalanine. This causes a
buildup of phenylalanine in your body

CAUSE :

●​ Both parents must pass on a defective version of the PAH gene for their child to inherit
the disorder.
●​ If just one parent passes on an altered gene, the child won’t have any symptoms, but
they’ll be a carrier of the gene.

SYMPTOM
 24

●​ PKU symptoms can range from mild to severe.

●​ The most severe form of this disorder is known as classic PKU. An infant with classic
PKU may appear normal for the first few months of their life. If the baby isn’t treated for
PKU during this time, they’ll start to develop the following symptoms:
❖​ seizures
❖​ tremors, or trembling and shaking
❖​ stunted growth
❖​ hyperactivity
❖​ skin conditions such as eczema
❖​ a musty odor of their breath, skin, or urine

If PKU isn’t diagnosed at birth and treatment isn’t started quickly, the disorder can cause:

●​ irreversible brain damage and intellectual disabilities within the first few months of life

●​ behavioral problems and seizures in older children

A less severe form of PKU is called variant PKU or non-PKU [Link]

occurs when the baby has too much phenylalanine in their body. Infants with this form of the
disorder may have only mild symptoms,

ALBINISM

Albinism refers to a range of disorders that result from a reduction in or absence of the

pigment melanin. These vary in severity, but they often cause white skin, light hair, and

vision problems.

●​ Albinism is a genetic condition.

●​ It primarily affects the hair, eyes, skin, and vision.
●​ There is no cure for albinism, but some symptoms are treatable.
●​ An estimated 1 in 70 people carry the genetic mutation associated with albinism.
●​ Albinism is an inherited disease characterized by a substantially lower rate of melanin
[Link] is the pigment responsible for the color of the skin, hair, and eyes.
 25

●​ People with albinism often have lighter colored skin and hair than the other members of
their family or ethnic group. Vision problems are also common.

TYPES :Albinism has two main types: ocular albinism (OA), which primarily affects the eyes,
and oculocutaneous albinism (OCA), which affects the skin, hair, and eyes.

CAUSES

●​ Specialized cells in the skin, hair, and eyes called melanocytes produce melanin. If there
is a change in one of these genes, it can cause albinism. The mutations interfere with an
enzyme called tyrosinase. This enzyme breaks down the amino acid tyrosine and creates
melanin.
●​ Depending on the specific mutation, melanin production either slows down or stops
entirely.
●​ An individual must receive mutated copies of a gene from both the mother and father to
develop albinism. The parent who carries the gene often does not show symptoms.
●​ If both parents carry the gene but have no symptoms, there is a 1 in 4 chance that the
child will have albinism.
●​ There is a 1 in 2 chance that the child will become a carrier, meaning that they carry the
gene but have no symptoms.
The main symptoms
Skin: The most obvious sign of albinism is a lighter skin tone, although this is not always the
case. In some people, levels of melanin slowly increase over time, darkening the skin tone as the
person ages.
An individual’s skin may burn easily in the sun, and it does not usually tan. After sun exposure,
some people with albinism might develop:
●​ freckles
●​ moles, which are usually pink in color due to the reduced quantities of pigment
●​ lentigines, which are large freckle-like spots
There is also a higher risk of skin cancer. People with albinism should use sunscreen with an SPF
of at least 20 and report any new moles or other skin changes to a doctor.
Hair :In people with albinism, hair color can range from white to brown. Those of African or
Asian des`cent tend to have yellow, brown, or reddish [Link] the individual ages, their hair color
may slowly darken.
Eye color : Eye color may also change with age and can vary from very light blue to brown.
Low levels of melanin in the iris mean that the eyes can appear slightly translucent and, in a
certain light, look red or pink as the light reflects off the retina at the back of the eye.
 26

The lack of pigment prevents the iris from fully blocking sunlight, so the person is sensitive to
light. Doctors call this photosensitivity.
VisionAll types of albinism affect the vision to a certain degree. Possible changes to eye function
include
●​ Nystagmus: The eyes move rapidly and uncontrollably back and forth.
●​ Strabismus: The eyes do not align.
●​ Amblyopia: This is the medical name for a lazy eye.
●​ Myopia or hypermetropia: The person may have extreme nearsightedness or
farsightedness.
●​ Photophobia: The eyes are particularly sensitive to light.
●​ Optic nerve hypoplasia: Visual impairment happens because an individual’s optic nerve is
underdeveloped.
●​ Optic nerve misrouting: Nerve signals from the retina to the brain follow unusual nerve
routes.
●​ Astigmatism: An abnormal inflexibility of the front surface of the eye or lens results in
blurred vision.

ALKAPTONURIA

Alkaptonuria, also known as “black urine disease”, is a rare inherited disease

●​ Alkaptonuria is a disease where a specific gene – homogentisate 1,2-dioxygenase (HGD)

– is mutated, giving rise to the corresponding defective HGD enzyme.
●​ In this disease, the body cannot properly metabolize phenylalanine and tyrosine, which
are two of the 20 amino acids (building blocks of proteins) leading to accumulation of
homogentisic acid, one of the by-products of their metabolism.
●​ Homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA),
commonly known as “alkapton” are excreted in the “urine” – hence the name
“Alkaptonuria”.
●​ In this condition, the patient’s urine exhibits a characteristic black color upon exposure to
air.

CAUSE:
 27

●​ Alkaptonuria is inherited as an autosomal recessive trait (characteristic). Recessive

genetic disorders occur when a person inherits the same abnormal gene for the same trait
from both the parents.
●​ This means that in order to get the disease, both the parents must have a copy of the
defective gene, which in this case is the HGD gene.
●​ However, if that person receives a functional gene from one parent and a defective gene
from the other, then he/she will be a carrier of the disease but will not exhibit any
symptoms. Thus, both parents will be carriers of the gene but do not suffer from the
condition.
MECHANISM:
●​ Alkaptonuria is caused by mutations in the HGD gene, which encodes the enzyme
homogentisate 1,2-dioxygenase (HGD).
●​ This enzyme helps breakdown the amino acids phenylalanine and tyrosine, which are
important building blocks of proteins.
●​ Mutations in the HGD gene produce a defective HGD enzyme, which hampers its role in
the breakdown of phenylalanine and tyrosine.
●​ This results in the accumulation of HGA, which is an intermediate product of
phenylalanine and tyrosine metabolism. From early childhood, this acid is excreted in the
urine, which has a characteristic black color. Homogentisic acid slowly accumulates in
the connective tissues, which causes darkening of the skin and cartilage.
●​ Over time, usually after reaching adulthood, the affected tissues can become blue-black
in color.
●​ Moreover, a build-up of HGA in the joints leads to osteoarthritis.

Symptoms

●​ Black Colored Urine: Urine becomes black in color upon exposure to air. Sweat and
earwax can also exhibit a black color.
●​ The cartilage of the ear lobes can become thickened, irregular and blue, grey or black in
color. Dark spots can also occur on the sclera (whites of the eyes).
●​ The tendons can become thickened, inflamed and painful, technically termed as
tendinitis. Eventually, discoloration of the tendons can become visible on the overlying
skin.
●​ Kidney & Prostate Stones: Kidney stones can develop in 50% of affected individuals
over 64 years of age. Men with alkaptonuria may also develop prostate stones. Passage of
these black stones can be extremely painful.
●​ There can be chronic joint pain and inflammation (arthritis). When the spine and large
joints such as the hips and knees are affected, it is technically termed as ochronotic
arthropathy.
 28

●​ Ankylosis & Kyphosis: Intervertebral discs can flatten, calcify and eventually fuse. This
can result in ankylosis, (a condition where the affected joints become stiff and immobile).
Moreover, kyphosis or hunchback may occur, where there is an excessive convex
curvature of the spine.
●​ Stiffening of Heart Valves: Accumulation of HGA within the aortic or mitral valves can
cause thickening of the valves and narrowing (stenosis) of their openings due to
calcification. In some cases, calcification of the coronary blood vessels may also occur.

GALACTOSEMIA

●​ Galactosemia (a high blood level of galactose) is a carbohydrate metabolism disorder that

is caused by a lack of one of the enzymes necessary forçe is passed down through
families. If both parents carry a MUTATED copy of the gene that can cause galactosemia,
each of their children has a 25% (1 in 4) chance of being affected with it.
There are DIFFERENT forms of the disease:

●​ Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the

most common and most severe form
●​ Deficiency of galactose kinase (GALK)
❖​ People with galactosemia are unable to fully break down the simple sugar galactose.
Galactose makes up one half of lactose, the sugar found in milk.
❖​ If an infant with galactosemia is given milke yes TX DS and tgggtyyttt and handedness
effects of by the same time for the best to you and try to get a few substances made from
galactose build up in the infant's system. These substances damage the liver, brain,
kidneys, and eyes.
❖​ People with galactosemia cannot tolerate any form of milk (human or animal).

Symptoms

Infants with galactosemia can show symptoms in the first few days of life if they eat formula or
breast milk that contains lactose. The symptoms may be due to a serious blood infection with the
bacteria E coli.

Symptoms of galactosemia are:

●​ Convulsions
 29

●​ Irritability
●​ Lethargy
●​ Poor feeding -- baby refuses to eat formula containing milk
●​ Poor weight gain
●​ Yellow skin and whites of the eyes (jaundice)
●​ Vomiting

Brachydactyly

●​ Brachydactyly is a shortening of the fingers and toes due to unusually short bones.
●​ This is an inherited condition, and in most cases does not present any problems for the
person who has it.
●​ There are different types of brachydactyly, based on which bones are shortened.

Commonly involved genes:

●​ HOXD13
●​ IHH (Indian Hedgehog gene)
●​ GDF5

These genes regulate limb and digit formation.

Symptoms

●​ The signs of brachydactyly are usually present at birth, but it’s possible that shortened
limbs become more obvious with growth and development.
●​ The main symptom of brachydactyly is fingers, toes, or both that are shorter than normal.
●​ The shortened fingers and toes of brachydactyly may cause you to have difficulty with
grip.
●​ If the brachydactyly is severe in the feet, you may have trouble walking
●​ Unless you have another condition associated with brachydactyly, you should not feel
any pain or have any other symptoms
●​ These symptoms are rare, however, when there is no other condition present.
 30

Thalassemia(MAJOR AND MINOR)

●​ It is an autosomal recessive disease.

●​ Thalassaemia is the name for a group of inherited conditions that affect a substance in the
blood called haemoglobin.
●​ People with thalassaemia produce either no or too little haemoglobin, which is used by
red blood cells to carry oxygen around the body.
●​ This can make them very anaemic (tired, short of breath and pale).
INHERITANCE

●​ To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a
copy of the faulty beta thalassaemia gene from both of their parents.

●​ Another type of thalassaemia, alpha thalassaemia, has a more complex inheritance pattern
because it involves 4 potentially faulty genes, rather than just [Link] of parents who
are carriers of the alpha thalassaemia trait will be born with the condition if they inherit 3
or 4 copies of the faulty gene.
●​ Too much iron in the body - Facial bone deformities, abdominal swelling, dark urine are
some of the symptoms of thalassemia.

●​ Anemia -tiredness and a general lack of energy, shortness of breath, palpitations, pale
skin, yellowing of the skin and eyes

Cystic Fibrosis
●​ This is an autosomal recessive disorder.
●​ The seventh pair of chromosomes has a gene called the CFTR (cystic fibrosis
transmembrane regulator) gene. Changes (mutations) or errors in this gene are what cause
CF.
●​ A child will be born with CF only if they inherit one CF gene from each parent. A person
who has only one CF gene is called a CF carrier. They are healthy and don't have the
disease. But they are carriers of the disease. A parent can be a CF carrier, and pass the CF
gene on to their child.
●​ This disease affects the lungs and the digestive system and the body produces thick and
sticky mucus that blocks the lungs and pancreas.
●​ People suffering from this disorder have a very short life-span.
 31

AUTOSOMAL DOMINANT MUTATIONAL DISORDER

HUNTINGTON DISORDER

●​ Huntington disease (HD) is an incurable, adult-onset, progressive

neurodegenerative disorder which presents with involuntary movements,
dementia, and behavioral changes. HD is named after George Huntington.
●​ The mutation is a dominant gene, so if a parent has HD then the children have a
50-50 risk of inheriting it.
●​ In HD there is an excessive sequence of CAG repeats in part of the HTT
("Huntingtin") gene, which is located on the short arm of chromosome 4

CHROMOSOMAL DISORDERS
★​ Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or
changed or their number is abnormal.
★​ There is no inheritance pattern .
★​ Any random person can develop this condition .
★​ These are caused by the defective cell division (MITOSIS - MEOSIS) where proper
separation or replication of chromosomes does not happen .
★​ Thus the chromosomes in the offspring are either more /less in no. or their shape is
changed.

Types of chromosomal disorders

Two types :
●​ PLOIDY MUTATION - CHANGE IN PAIRING FORMAT OF CHROMOSOMES
eg . MONOSOMY(2n-1) , TRISOMY (2n+1) ETC
●​ CHROMOSOMAL ABERRATION - CHANGE IN STRUCTURE OF THE
CHROMOSOME
eg : addition , deletion, inversion or translocation of parts of chromosome

Chromosomal sex linked disorders

 32

KLINEFELTERS SYNDROME (XXY)

●​ Klinefelter syndrome is a genetic condition that results when a boy is born with an extra
copy of the X chromosome(XXY).
●​ Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed
until adulthood.
●​ Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than
normal testicles, which can lead to lower production of testosterone.
●​ The syndrome may also cause reduced muscle mass, reduced body and facial hair, and
enlarged breast tissue.
●​ The effects of Klinefelter syndrome vary, and not everyone has the same signs and
symptoms.
●​ Most men with Klinefelter syndrome produce little or no sperm, but assisted reproductive
procedures may make it possible for some men with Klinefelter syndrome to father
children.

SYMPTOMS

●​ Taller than average stature

●​ Longer legs, shorter torso and broader hips compared with other boys
●​ Absent, delayed or incomplete puberty
●​ Small, firm testicles
●​ Small penis
●​ Enlarged breast tissue (gynecomastia)
●​ Weak bones
●​ Low sperm count or no sperm
●​ Less muscular compared with other men
 33

TURNERS SYNDROME (45X - MONOSOMY OF X

CHROMOSOME)

Turner syndrome, a condition that affects only females, results when one of the X chromosomes
(sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of
medical and developmental problems, including short height, failure of the ovaries to develop
and heart defects.

SYMPTOMS
●​ Low-set ears
●​ Broad chest with widely spaced nipples
●​ Arms that turn outward at the elbows
●​ Fingernails and toenails that are narrow and turned upward
●​ Swelling of the hands and feet, especially at birth
●​ smaller than average height
●​ Slowed growth
●​ Congenital Cardiac and kidney defects
●​ Low hairline at the back of the head
●​ Receding or small lower jaw
●​ Short fingers and toes
●​ Slowed growth
 34

●​ Sexual development that "stalls" during teenage years

●​ Early end to menstrual cycles not due to pregnancy
●​ For most females with Turner syndrome, inability to conceive a child without
fertility treatment

Chromosomal Autosomal Genetic Disorders

Down syndrome

Down syndrome is a chromosomal condition that is associated with intellectual disability, a

characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.
All affected individuals experience cognitive delays, but the intellectual disability is usually mild
to moderate.
Most cases of Down syndrome result from trisomy 21, which means each cell in the body has
three copies of chromosome 21 instead of the usual two copies.

CAUSES

Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual
two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to
separate. As the embryo develops, the extra chromosome is replicated in every cell of the body.
This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.
 35

Symptoms

●​ Moon faced
●​ Eyes that slant up at the outer corner
●​ Small ears
●​ Flat noses
●​ Protruding tongue
●​ Tiny white spots in the colored part of the eyes
●​ Short neck
●​ Small hands and feet
●​ Short stature
●​ Loose joints
●​ Weak muscle tone
●​ Delayed milestones
●​ Mild to moderate IQ

EDWARDS SYNDROME
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many
parts of the body.
 36

CAUSES
Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of
the usual two copies.

The extra genetic material disrupts the normal course of development, causing the characteristic features of
trisomy 18.

SYMPTOMS

●​ slow growth before birth (intrauterine growth retardation)

●​ Decreased muscle tone (hypotonia).
●​ a low birth weight.
●​ Low-set ears.
●​ Internal organs malformation or malfunctioning differently (heart and lungs).
●​ Issues with cognitive development (intellectual disabilities), which are typically severe.
●​ clenched fists with overlapping fingers and/or clubfeet.
●​ Small physical size head (microcephally), mouth and jaw (MICROGNATHIA).
●​ Weak cry and minimal response to sound
 37

●​ Breathing abnormalities (respiratory failure).

●​ Gastrointestinal tract and abdominal wall issues and birth defects.
Due to the presence of several life-threatening medical problems, many individuals with trisomy
18 die before birth or within their first month. Five to 10 percent of children with this condition
live past their first year, and these children often have severe intellectual disability.

Cri du chat syndrome ( cat’s cry)

It is a rare genetic condition that is caused by the deletion of genetic material on the small arm
i.e. p arm of chromosome 5.(5p- or 5p minus)
The symptoms of cri du chat syndrome vary among individuals. The variability of the clinical
symptoms and developmental delays may be related to the size of the deletion of the 5p arm.

The larynx develops abnormally due to the chromosome deletion, which affects the sound of the
child’s cry. The syndrome is more noticeable as the child ages, but becomes difficult to diagnose
past age 2.

Cause - unknown- .rare genetic deletion

Symptoms

●​ high-pitched cat-like cry,The cat-like cry typically becomes less apparent with time.
●​ mental disablity,
●​ delayed development, distinctive facial features,
●​ small head size (microcephaly),
●​ widely-spaced eyes (hypertelorism),
●​ low birth weight and
●​ weak muscle tone (hypotonia) in infancy.
●​ Most individuals who have cri du chat syndrome have difficulty with language.
●​ feeding difficulties (DYSPHAGIA), delays in walking, hyperactivity, scoliosis, and
significant disability.
 38

●​ A small number of children are born with serious organ defects and other life-threatening
medical conditions, although most individuals with cri du chat syndrome have a normal
life expectancy.
●​ Both children and adults with this syndrome are usually friendly and happy, and enjoy
social interaction.

Patau's syndrome (TRISOMY 13)

Patau's syndrome is a serious rare genetic disorder caused by having an additional copy of
chromosome 13 in some or all of the body's cells. It's also called trisomy 13.
●​ A baby with Patau's syndrome has 3 copies of chromosome 13, instead of 2.
●​ This severely disrupts normal development and, in many cases, results in miscarriage,
stillbirth or the baby dying shortly after birth.
●​ Babies with Patau's syndrome grow slowly in the womb and have a low birth weight,
along with a number of other serious medical problems.
Their growth in the womb is often restricted, resulting in a low birth weight,
8 out of 10 will be born with severe heart defects.
The brain often does not divide into 2 halves. This is known as holoprosencephaly.
When this happens, it can affect facial features and cause defects such as:
●​ cleft lip and palate
●​ an abnormally small eye or eyes (microphthalmia)
●​ absence of 1 or both eyes (anophthalmia)
●​ reduced distance between the eyes (hypotelorism)
●​ problems with the development of the nasal passages
Other abnormalities of the face and head include:
●​ smaller than normal head size (microcephaly)
●​ skin missing from the scalp (cutis aplasia)
 39

●​ ear malformations and deafness

●​ raised, red birthmarks (capillary haemangiomas)
There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly)
and a rounded bottom to the feet, known as rocker-bottom feet.

Category Disorder Description Example Disorder

Single-Gene Disorders Autosomal Dominant Caused by a single Huntington's disease,

(Mendelian) mutated gene on an
Marfan syndrome,
autosome; only one
Neurofibromatosis type
copy needed to cause
1
disease

Single-Gene Disorders Autosomal Recessive Both copies of the gene Cystic fibrosis,
(Mendelian) must be mutated for Sickle cell anemia,
disease manifestation Phenylketonuria ,
Albinism ,
Alkaptonuria,
Brachydactyly,
Galactosemia

Single-Gene Disorders X-Linked Dominant Mutation in a gene on Rett syndrome, Fragile

(Mendelian) the X chromosome; X syndrome
more severe in males

Single-Gene Disorders X-Linked Recessive Mutation in an X Hemophilia, Duchenne

(Mendelian) chromosome gene; muscular dystrophy,
mostly affects males, Color blindness
females are carriers

Chromosomal Deletion , duplication , Caused by deletions, Cri-du-chat syndrome

aberrations translocation, duplications, or (deletion on
inversion translocations in chromosome 5),
Structural
chromosomes Williams syndrome
Abnormalities
(deletion on
chromosome 7)

Chromosomal Aneuploidy Loss or gain of one or Down syndrome

aberrations the presence of an abnormal number more chromosomes (Trisomy 21),
of chromosomes in a cell - Having an
Numerical extra or missing chromosome Turner syndrome (45,
Abnormalities X), Klinefelter
syndrome (47, XXY)
 40

Chromosomal Polyploidy - cells have Extra complete sets of Rare in humans, mostly
aberrations more than two sets of chromosomes (e.g., lethal in embryos
chromosomes.
triploidy, tetraploidy)
Numerical
Abnormalities