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)
2
Q
Cri du chat syndrome
A
del(5p), 1/20000-50000 live births, Growth deficiency, catlike cry in infancy, small head, mental retardation
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.