Question

Name any two syndromes caused due to chromosomal abnormality in humans and mention the abnormality in each case. Describe the physical (body) symptoms related to any one of these syndromes

Answer 1

1) Cri-Du-Chat syndrome - This disorder affects newborn cries like mewing of a cat. This condition is due to a deletion in short arm of the chromosome number 5.

Symptoms - a person suffering from this disorder has a small head, receding chin, widely spaced eyes, and congenital heart diseases.

2) Klinefelter Syndrome - This genetic disorder occurs by the union of an XX egg and a normal Y sperm or normal X egg and abnormal XY. The individual has 47 chromosomes (44+XXY).

Symptoms - the persons are sterile males with mental retardation, undeveloped testes, sparse body hair and long limbs with some female characteristics such as enlarged breasts.