Genetic Factors in Developmental Anatomy — MCQs

All of the following are true about Down syndrome except for one.

Gene not involved in SCID:

Prader-Willi syndrome and Angelman syndrome are examples of what genetic phenomenon?

What is the pattern of inheritance in neural tube defects?

In Marfan syndrome, the defect is in the gene encoding which protein?

Syndrome which is characterized by 2X chromosomes and 1Y chromosome is:

An intrauterine scan at the 13th week of pregnancy showed a fetus with multiple long bone fractures. What is commonly associated with this finding?

The labia majora develop from which embryological structure?

All of the following are neural tube defects except:

Hypercoagulability due to a defective factor V gene is called: