Scribd
Upload
9 views2 pages

Chromosomal Syndromes Overview

The document outlines various genetic syndromes, detailing their chromosomal characteristics and clinical signs. It includes Trisomy 13, Trisomy 18, Cri-Du-Chat, Turner, Klinefelter, Fragile X, and Down Syndrome, highlighting cognitive challenges, physical anomalies, and other health issues associated with each syndrome. Each entry specifies the chromosomal makeup and key clinical features for better understanding of these conditions.

Uploaded by

ANDONG, Honey Grace N.
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
9 views2 pages

Chromosomal Syndromes Overview

The document outlines various genetic syndromes, detailing their chromosomal characteristics and clinical signs. It includes Trisomy 13, Trisomy 18, Cri-Du-Chat, Turner, Klinefelter, Fragile X, and Down Syndrome, highlighting cognitive challenges, physical anomalies, and other health issues associated with each syndrome. Each entry specifies the chromosomal makeup and key clinical features for better understanding of these conditions.

Uploaded by

ANDONG, Honey Grace N.
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

Andong, Honey Grace N.

BSN 2C​
March 28,2023

SYNDROME CHROMOSOMAL CLINICAL SIGNS


CHARACTERISTICS
Trisomy 13 Syndrome (47XY13+ Extra Chromosome 13
​ Severely Cognitively
OR 47XX13+)
challenged
​ eye agenesis

​ multiple congenital
malformations.
Trisomy 18 Syndrome (47XY18+ Extra Chromosome 18
​ Cognitively challenged,
OR 47XX18+)
​ tend to be small for
gestational age,
​ low-set ears, small jaw,

​ congenital malformations

​ heart defects.

Cri-Du-Chat Syndrome Deletion of short arm of


​ Tend to have a small head
(46XX5P- OR 46XY5-) chromosome 5
​ wide set eyes

​ cognitively challenged

​ facial structure anomalies

​ peculiar catlike cry.

Turner Syndrome (45X0) Only one X chromosome present


​ Short stature
(45X0)
​ Infertility

​ streak ovaries

​ webbed neck.

Klinefelter Syndrome (47XXY) An extra X chromosome present


​ Gynecomastia
(47XXY)
​ small testes
​ subfertility.

Fragile X Syndrome Distortion of X chromosome


​ Cognitively challenged due
946XY23Q-)
to reduced intellectual
functioning with marked
deficits in speech
arithmetic.
​ Large head, long face with
a high forehead
​ prominent lower jaw

​ large protruding ears

​ obesity.

Down Syndrome (Trisomy 21) Extra chromosome 21


​ Cognitively challenged
(47XY21+ OR 47XX21+)
​ hypotonia

​ protruding tongue

​ epicanthal folds, nose is


broad and flat, palpebral
fissure, brushfield spots
​ short neck, and back of the
head is flat

You might also like