Genetic Abnormalities

Question 1

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Answer 1

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Question 2

What are the physical characteristics of Trisomy 13 (Patau Syndrome)?

Answer 2

Cleft lip/palate, polydactyly, scalp defects, micropthalmia, sloping forehead, hypertelorism and proboscis (long nose)

Question 3

What are the physical characteristics of Trisomy 18 (Edwards Syndrome)

Answer 3

Prominent occiput, micrognathia, rocker bottom feet, short sternum, narrow pelvis, clenched fists with overlapping second and 5th fingers, short dorsiflexed first toe, partial syndactyly of toes, upturned nares

Question 4

What disease is associated with orange sand uric acid crystals found in diaper?

Answer 4

Lesch Nyhan Syndrome (X linked, affects males)

Question 5

What does the VATER syndrome stand for?

Answer 5

vertebral or vascular, anal, tracheo-esophageal, renal or radial anomalies

Question 6

What is the gene mutation associated with transient leukemia/transient myeloproliferative disorder in Down’s syndrome?

Answer 6

GATA1 gene mutation