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
what is the chromosome region and phenotype associated with CMT/HNPP syndrome?
17p12
del HNPP
dup CMT1A
what is the chromosome region and phenotype - associated with Miller- dieker syndrome?
del 17p13.3 terminal del lissencephaly- LIS1 severe MR seizures
what is the chromosome region and phenotype - associated with Koolen de vries syndrome?
del 17q21.31 DD MR ID hypotonia in infancy undescended testes and heart defects
what is the chromosome region and phenotype - associated with alagile syndrome?
del20p12
pulmonary stenosis
insufficient development of bile duct
what is the chromosome region and phenotype - associated with cate eye syndrome?
iso 20q tetrasomy 20q verical colobomas in eyes often tissue specific highly variable mild to moderate MR
what is the chromosome region and phenotype - associated with Di george syndrome?
22q11.2
heart defects- TOF
what phenotype is associated with SHOX del?
In PAR region
short stature
cause of short stature in Turner syndrome
Mutations of SHOX = leri-weill dyschondrosteosis = disporportionate short stature and madelung deformity
homozygous loss of SHOS associated with more severe langer mesomelic dysplasia
What is the phenotype of Kallman syndrome and causative genes?
anosmia and hypogonadotropic hypogonasdism (infertility)
KALL1- sex linked form
FGFR1- AD form
what gene is associated with icthyosis and where is it located?
STS gene in PAR
dry scaling of skin due to a steroid sulfatase deficiency
