microdeletion and microduplication syndromes Flashcards
what is the chromosome region and phenotype associated with Wolf hirschon syndrome?
del 4p16.3 IUGR- USS psychomotor delay skeletal abnormalities greek warrior helmet severe MR
what is the chromosome region and phenotype associated with cri-du-chat syndrome?
del 5p
variable breakpoints so useful to perform micoarray
5p15.2 - critical region for MR
5p15.3- critical region for cat-like cry
also ID, DD, microcephaly, hypontonia, low birth weight
what is the chromosome region and phenotype associated with Smith magenis syndrome?
interstitial 17p11.2 4Mb common deletion behavioural problems sleep disturbance self harm broad face, deep set eyes, large jaw
what is the chromosome region and phenotype associated with Cornelia del lange syndrome?
del 5p13.1
short stature, ID
sonophyrus, small low set ears, wide spaced teeth
what is the chromosome region and phenotype associated with X-linked Kallman syndrome?
del Xp22.3
failure of normal puberty
loss of sense of smell
what is the chromosome region and phenotype associated with sottos syndrome?
del 5q35
overgrowth
LD, MR, DD
cerebral gigantism
what is the chromosome region and phenotype associated with Williams Beuren syndrome?
del 7q11.23 heart defects (ELN) elfin like features cocktail party manneris LD hypercalcaemia
what is the chromosome region and phenotype associated with Langer Giedon syndrome?
del 8q24 mild to mo MR short stature and fingers small head skeletal abn
what is the chromosome region and phenotype associated with del 9p syndrome?
del 9p
MR
long philtrum
upslanting palepebral fissure
what is the chromosome region and phenotype associated with sex reversal syndrome?
del 9p24.3
loss = XY develop as female
what is the chromosome region and phenotype associated with WAGR syndrome?
del 11p13
PAX6 - anirida
WTS= wilms tumour
what is the chromosome region and phenotype associated with Jacobsen syndrome?
del 11q23
DD and ID
ADHD
compulsive behaviour
what is the chromosome region and phenotype associated with retinoblastoma?
del 13q14
loss of RB gene
retinoblastoma
what is the chromosome region and phenotype associated with Rubenstein-tabi syndrome?
del 16p13.3 braod thumbs and toes short stature mod to severe MR distinct facial features
what is the chromosome region and phenotype associated with PWS/AS syndrome?
15q11.2q11.3