Chromosomal Disorders | Genetic Disorders

CHROMOSOMAL DISORDERS

Failure of segregation of chromatids during cell division cycle results in the gain or loss of a chromosome(s), called aneuploidy.

E.g., Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome.

a. Down’s syndrome

Down’s syndrome is caused by an extra copy of chromosome number 21 (trisomy of 21).

This disorder was first discovered by Langdon Down (1866).

1. Short statured with small round head.

2. Partially open mouth with protruding furrowed tongue.

3. Palm is broad with characteristic palm crease.

4. Physical, psychomotor and mental development is retarded.

b. Klinefelter’s syndrome

Klinefelter’s syndrome is caused by the presence of an additional copy of X-chromosomes, resulting in the karyotype of 44+XXY.

1. Sex of the individual is masculine but possess feminine characters.

2. Gynaecomastia i.e., development of breasts.

3. Poor beard growth and often sterile.

4. Feminine pitched voice

c. Turner’s syndrome

Turner’s syndrome is caused by the absence of one of the X-chromosomes. i.e., 44+XO.

1. Sterile female with rudimentary ovaries.

2. Shield shaped thorax.

3. Webbed neck.

4. Poor development of breasts.

5. Short stature, small uterus, puffy fingers.