Deletions Flashcards
46, XY, del(5)(p15.2)
Cri-du-chat syndrome
Cri-du-chat syndrome
46, XY, del(5)(p15.2)
46, XX, del(17p11.2)
Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies
46, XX, del(17p11.2) - deletion of the gene encoding peripheral myelin protein-22 (contiguous gene syndromes/”genetic” disorders)
foot drop, loss of sensation in legs for days to months
Hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies - Symptoms
foot drop, loss of sensation in legs for days to months
Velocardiofacial syndrome - Symptoms
Cleft palate, septal defects
del 22q11
Velocardiofacial syndrome
Velocardiofacial syndrome
del 22q11
Cleft palate, septal defects
Velocardiofacial syndrome - Symptoms
DiGeorge Syndrome
del 22q11.2
del 22q11.2
DiGeorge Syndrome
absent or hypoplastic thymus and parathyroids, congenital heart disease, neural crest, cranchial pouches, great vessels, outflow tract defects in heart
DiGeorge Syndrome
DiGeorge Syndrome - Symptoms
absent or hypoplastic thymus and parathyroids, congenital heart disease, neural crest, cranchial pouches, great vessels, outflow tract defects in heart
Wolf-Hirschhorn syndrome
del(4p16.3)
del(4p16.3)
Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome - symptoms
facial clefting, prominent ears, microcephaly, intellectual disabilities
