Chromosomal Mutations Flashcards

1
Q

DiGeorge’s syndrome and velocardiofacial syndrome

A

del(22q), 1/4000 live births, CATCH 22 (cardia abnormality/abnormal facies, T-cell deficit, cleft palate, hypercalcemia)

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2
Q

Cri du chat syndrome

A

del(5p), 1/20000-50000 live births, Growth deficiency, catlike cry in infancy, small head, mental retardation

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3
Q

Contiguous gene syndrome; Wilms; tumor, anirida, genitourinary anomalies, mental retardation sundrome

A

del(11p), 1/150000 live births, Aniridia (absense of iris), hemihypertrophy (one side of the body seems to grow fast than the other), and other congenital anomalies.

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