Question

Mention any two autosomal genetic disorders with their symptoms.

Answer 1

Down syndrome is trisomy-21 i.e. presence of chromosome 21 in three copies. The affected individuals are mentally challenged (mildly to moderately) and suffer from congenital heart defects with a very high (1/100) risk of acute leukemia. They are short in stature and have a broad, short skull; low-set ears, small mouth, the hyper-flexibility of joints; and excess skin on the back of the neck, epicanthus skin fold above the eyes and transverse palmar crease.

Cri-du-chat Syndrome characterized by mewing like cry of the newborn which is caused by loss of half of the short arm of chromosome 5 causes a severe developmental delay in newborn.