Aim: To Study human karyotype (Normal and abnormal)

Karyotypes are known as the total chromosome count of an organism. It describes the
morphological and physical details and the appearance of the chromosomes under the light
microscope. The chromosomes are studied on the basis of several characteristics. The
different characteristics of the chromosomes such as the length, position of the centromeres,
banding pattern. This process also helps in the assessment of any differences between the sex
chromosomes and any types of abnormalities.

1. Normal male and Normal Female

The basic chromosome number is the number of chromosomes that are found in the somatic
cells of the body. These numbers of chromosomes in the somatic cells of an individual or
species is known as the somatic number. It is denoted as 2n. The other types of cells are the
germ cells or the sex cells, the chromosomal number is half of the somatic cells, which is n.
In humans, the total chromosomes are 46 in the somatic cells i.e. 2n=46. Whereas, the
chromosomal number of the germ cells are represented by the sex chromosomes which in the
male is denoted by XY and in female, it is XX. The male contains one X chromosome and
another Y chromosome and is heterogametic. But the females are homogametic and contain
two X chromosomes. Therefore, the normal male karyotype can be denoted by 44 AA + XY.
In females, 2 X chromosomes and 46 autosomes are present.

a. Normal Male Karyotype

 b. Normal Female Karyotype
2. Klinfelter Syndrome

Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X
chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically
affects physical, neurodevelopmental, behavioral, and neurocognitive functioning. Common
physical features may include tall stature, reduced muscle tone, small testes (hypogonadism),
delayed pubertal development and lack of secondary male sex characteristics such as
decreased facial and body hair. Increased breast growth (gynecomastia) may occur later in
puberty without appropriate biological care. With proper treatment, the incidence of
gynecomastia typically occurs in less than 10% of boys with 47,XXY (KS).

47, XXY (KS) is not inherited. Males with 47, XXY (KS) have one extra X chromosome
because of a nondisjunction error that randomly occurs during the division of the sex
chromosomes in the egg or sperm. Some males with 47, XXY (KS) are mosaic, meaning that
some cells have an extra X chromosome and other cells do not. Mosaic 47, XXY (KS) occurs
because of an error in the division of the sex chromosomes in the zygote after fertilization.
The extra X chromosome typically results in primary testicular failure leading to androgen
deficiency.
3. Turner’s Syndrome
Turner syndrome is a rare chromosomal disorder that affects females. The disorder is
characterized by partial or complete loss (monosomy) of one of the second sex chromosomes.
Turner syndrome is highly variable and can differ dramatically from one person to another.
Affected females can potentially develop a wide variety of symptoms, affecting many
different organ systems. Common symptoms include short stature and premature ovarian
failure, which can result in the failure to attain puberty. Most women with Turner syndrome
are infertile.
Turner syndrome is caused by partial or complete loss (monosomy) of the second sex
chromosome. In females with Turner syndrome, all or a portion of one of the second sex
chromosome is missing. The reason that this occurs is unknown and is believed to result from
a random event. In some cases, the chromosomal abnormality appears to arise spontaneously
(de novo) due to an error in the division of a parent’s reproductive cells, either in the father’s
sperm or the mother’s egg. This results in the genetic error being contained in all cells of the
body.
 4. Down Syndrome

Physical traits, include upslanting palpebral fissures, flat nasal bridge and midface, decreased
muscle tone (hypotonia), wider space between first and second toe (“sandal gap”), nystagmus,
brachycephaly, incurving of the fifth finger (clinodactyly), narrow palate, overfolded helix of
the ear (especially with a small ear), short-appearing neck with redundant skin on the back of
the neck, broad and short hands and feet, and single transverse crease in the palm of the hand.
Abnormal karyotype – approximately 95% of cases result from chromosomal non-disjunction
of chromosome 21 (47,XX,+21 or 47,XY,+21) at conception. Translocation trisomy 21 (2%
of cases) is often familial, and commonly involves chromosomes 14 and 21. Mosaicism
occurs in about 2% of cases (post-zygotic non-disjunction or more rarely from trisomic
rescue). In 1% of cases, the extra chromosome 21 material originates from other
rearrangements.

5. Edward Syndrome

Trisomy 18 is a chromosomal abnormality. It's also called Edwards syndrome, after the doctor
who first described it. Chromosomes are the threadlike structures in cells that hold genes. Genes
carry the instructions needed to make every part of a baby's body. When an egg and sperm join
and form an embryo, their chromosomes combine. Each baby gets 23 chromosomes from the
mother's egg and 23 chromosomes from the father's sperm -- 46 in total. Sometimes the mother's
egg or the father's sperm contains the wrong number of chromosomes. As the egg and sperm
combine, this mistake is passed on to the baby.

A "trisomy" means that the baby has an extra chromosome in some or all of the body's cells. In the
case of trisomy 18, the baby has three copies of chromosome 18. This causes many of the baby's
organs to develop in an abnormal way.
6. Patau Syndrome

Trisomy 13 is a genetic disorder that your baby gets when they have an extra 13th
chromosome. In other words, they have three copies of their chromosome 13 when they
should have just two. It happens when cells divide abnormally during reproduction, and create
extra genetic material on chromosome 13. The additional chromosome can come from either
the egg or the sperm, but doctors think that the chances a woman will have a baby with any
chromosome abnormality go up after age 35. The extra 13th chromosome causes
severe mental and physical problems. Unfortunately, most babies born with it don’t live past
their first month or year. But some can survive for years. That’s because there are two different
kinds of trisomy 13. Babies can have three copies of chromosome number 13 in all of their
cells, or in only some of them. The symptoms depend on how many cells have the extra
chromosome.
Non-Disjunction of the Chromosomes

Nondisjunction is defined as the failure of chromosomes or chromatids to segregate during cell

division. It leads to daughter cells with abnormal numbers of chromosomes, which is known as
aneuploidy. The irregular distribution of chromosomes during cell division leads to one cell with
an extra chromosome and the other with a less chromosome.

Nondisjunction can be further categorized into mitotic nondisjunction or meiotic nondisjunction.

 Mitotic Nondisjunction occurs during anaphase when sister chromatids fail to separate.
 Meiotic Nondisjunction is of two types. In the first type, due to nondisjunction during
meiosis I, homologous chromosomes fail to segregate at anaphase I and lead to all the
haploid cells with an abnormal number of chromosomes. The second type of
nondisjunction occurs during meiosis II when sister chromatids fail to segregate. It leads
to half of the haploid cells with abnormal chromosomes.
Mitotic nondisjunction leads to somatic mosaicism as only the daughter cells lineage originating
from the defective cell contains an abnormal set of chromosomes. It can lead to various forms of
cancer such as retinoblastoma.
Meiotic nondisjunction leads to chromosomal disorders known as aneuploidy, where there is loss
or gain of one or more chromosomes. Meiosis I nondisjunction is a more common cause of
aneuploidy than meiosis II nondisjunction. Aneuploidy can be monosomy (2n-1), trisomy (2n+1),
nullisomy (2n-2), disomy (n+1).