Cytogenetic disorder involving sex chromosome

Question 1

Disease related to cytogenetic disorder involving sex chromosome

Answer 1

1.Turner syndrome/ovarian dysgenesis
2.kleinfelter syndrome/seminiferous tubule dysgenesis
3.Hermaphroditism & pseudohermaphroditism
4.Noonan syndrome
5.testicular feminization syndrome/AIS
6.47xyy
7.Chromosomal breakage syndrome
8.Tripple X syndrome

Question 2

Cause of turner syndrome

Answer 2

1.Non-dysjunction
2.Mosaicism

Question 3

Most common heart disease in turner syndrome

Answer 3

coarctation of aorta

Question 4

Commonest cause of genetic infertility

Answer 4

Kleinfelter’s syndrome

Question 5

Malignancy associated with kleinfelter

Answer 5

1.Breast ca
2.Testicular ca

Question 6

Main cause of male pseudohermaphroditism

Answer 6

AIS/Testicular feminization

Question 7

The most common cause of female pseudohermaphroditism

Answer 7

CAH

Question 8

DS is more accurately dx by

Answer 8

Amniocentesis than by hormonal test

Question 9

Most common cause of male sterility

Answer 9

kleinfelter syndrome

Question 10

Mosaicism occure in the error of-

Answer 10

Anaphase