microdeletion and microduplication syndromes Flashcards

1
Q

what is the chromosome region and phenotype associated with Wolf hirschon syndrome?

A
del 4p16.3
IUGR- USS
psychomotor delay
skeletal abnormalities 
greek warrior helmet
severe MR
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2
Q

what is the chromosome region and phenotype associated with cri-du-chat syndrome?

A

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

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3
Q

what is the chromosome region and phenotype associated with Smith magenis syndrome?

A
interstitial 17p11.2
4Mb common deletion
behavioural problems
sleep disturbance
self harm
broad face, deep set eyes, large jaw
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4
Q

what is the chromosome region and phenotype associated with Cornelia del lange syndrome?

A

del 5p13.1
short stature, ID
sonophyrus, small low set ears, wide spaced teeth

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5
Q

what is the chromosome region and phenotype associated with X-linked Kallman syndrome?

A

del Xp22.3
failure of normal puberty
loss of sense of smell

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6
Q

what is the chromosome region and phenotype associated with sottos syndrome?

A

del 5q35
overgrowth
LD, MR, DD
cerebral gigantism

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7
Q

what is the chromosome region and phenotype associated with Williams Beuren syndrome?

A
del 7q11.23
heart defects (ELN)
elfin like features
cocktail party manneris
LD
hypercalcaemia
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8
Q

what is the chromosome region and phenotype associated with Langer Giedon syndrome?

A
del 8q24
mild to mo MR
short stature and fingers
small head
skeletal abn
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9
Q

what is the chromosome region and phenotype associated with del 9p syndrome?

A

del 9p
MR
long philtrum
upslanting palepebral fissure

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10
Q

what is the chromosome region and phenotype associated with sex reversal syndrome?

A

del 9p24.3

loss = XY develop as female

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11
Q

what is the chromosome region and phenotype associated with WAGR syndrome?

A

del 11p13
PAX6 - anirida
WTS= wilms tumour

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12
Q

what is the chromosome region and phenotype associated with Jacobsen syndrome?

A

del 11q23
DD and ID
ADHD
compulsive behaviour

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13
Q

what is the chromosome region and phenotype associated with retinoblastoma?

A

del 13q14
loss of RB gene
retinoblastoma

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14
Q

what is the chromosome region and phenotype associated with Rubenstein-tabi syndrome?

A
del 16p13.3
braod thumbs and toes
short stature
mod to severe MR
distinct facial features
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15
Q

what is the chromosome region and phenotype associated with PWS/AS syndrome?

A

15q11.2q11.3

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16
Q

what is the chromosome region and phenotype associated with CMT/HNPP syndrome?

A

17p12
del HNPP
dup CMT1A

17
Q

what is the chromosome region and phenotype - associated with Miller- dieker syndrome?

A
del 17p13.3
terminal del
lissencephaly- LIS1
severe MR
seizures
18
Q

what is the chromosome region and phenotype - associated with Koolen de vries syndrome?

A
del 17q21.31
DD
MR
ID
hypotonia in infancy
undescended testes and heart defects
19
Q

what is the chromosome region and phenotype - associated with alagile syndrome?

A

del20p12
pulmonary stenosis
insufficient development of bile duct

20
Q

what is the chromosome region and phenotype - associated with cate eye syndrome?

A
iso 20q
tetrasomy 20q
verical colobomas in eyes
often tissue specific
highly variable
mild to moderate MR
21
Q

what is the chromosome region and phenotype - associated with Di george syndrome?

A

22q11.2

heart defects- TOF

22
Q

what phenotype is associated with SHOX del?

A

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

23
Q

What is the phenotype of Kallman syndrome and causative genes?

A

anosmia and hypogonadotropic hypogonasdism (infertility)

KALL1- sex linked form
FGFR1- AD form

24
Q

what gene is associated with icthyosis and where is it located?

A

STS gene in PAR

dry scaling of skin due to a steroid sulfatase deficiency