Saturday, August 29, 2009

Question 28

A 5 year old boy is brought to the office for evaluation. He is joyful in the office, but the mother gives history that his social, speech and motor development is inappropriate. In fact, he lost his speech at the age of 2 years. He has constant dribbling and often remains constipated. The mother says he had feeding problems during infancy and used to cry like meowing. He has strabismus and epicanthic folds. On auscultation, he has a pansystolic murmur. His IQ was tested and was found to be around 55. What is the most likely chromosomal alteration in this patient.


A) Nondisjunction

B) Mosaicism

C) Translocation

D) Deletion

Answer posted under comments for question 29.

1 comments:

prerana,  September 1, 2009 at 12:53 PM  

Deletion(5p)- child is suffering from Cri-du-chat syndrome. most common cardiac defects in them is VSD which explains the pansystolic murmur.

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