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
facial clefting, prominent ears, microcephaly, intellectual disabilities
Wolf-Hirschhorn syndrome - symptoms
Cri-du-chat syndrome - symptoms
microcephaly, characteristic cry, seizures, intellectual disabilities
microcephaly, characteristic cry, seizures, intellectual disabilities
Cri-du-chat syndrome - symptoms
Williams syndrome
del(7q11.2)
del(7q11.2)
Williams syndrome
Williams syndrome - symptoms
congenital heart disease, short stature
congenital heart disease, short stature
Williams syndrome - symptoms
Langer-Giedion syndrome
del(8q24.1)
del(8q24.1)
Langer-Giedion syndrome
Langer-Giedion syndrome - symptoms
Tricho-rhino-pharangeal syndrome, multiple exostoses
Tricho-rhino-pharangeal syndrome, multiple exostoses
Langer-Giedion syndrome - symptoms
WAGR syndrome
del(11p13)
del(11p13)
WAGR syndrome
WAGR syndrome - symptoms
Wilms tumor, aniridia, genitourinary anomalies, intellectual disabilities
Wilms tumor, aniridia, genitourinary anomalies, intellectual disabilities
WAGR syndrome - symptoms
Miller-Dieker syndrome
del(17p13.3)
del(17p13.3)
Miller-Dieker syndrome
Miller-Dieker syndrome - symptoms
lissencephaly (agyria), profound intellectual disabilities
lissencephaly (agyria), profound intellectual disabilities
Miller-Dieker syndrome - symptoms
del(15)(q11-13) paternal
Prader-Willi Syndrome
Prader-Willi Syndrome
del(15)(q11-13) paternal
Prader-Willi Syndrome - symptoms
hypotonia, hypopigmentation, hypogenitalism, obesity
hypotonia, hypopigmentation, hypogenitalism, obesity
Prader-Willi Syndrome - symptoms
Angelman syndrome
del(15)(q11-q13) maternal
del(15)(q11-q13) maternal
Angelman syndrome
Angelman syndrome - symptoms
intellectual disabilities, developmentally delayed, tremulous movement of limbs, language impairment, hand flapping, happy demeanor, seizures when <3yo, misaligned eyes (strabismus)
intellectual disabilities, developmentally delayed, tremulous movement of limbs, language impairment, hand flapping, happy demeanor, seizures when <3yo, misaligned eyes (strabismus)
Angelman syndrome - symptoms
