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FRC Path 2023 > Session 3: Microdeletion and Microduplication Syndromes > Flashcards

Session 3: 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, hypotonia, 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, devdel, microcephaly
Facial features: unibrow, 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 Sotos syndrome?

A

del 5q35
overgrowth - pre-/postnatal
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
ID
long philtrum -the midline groove in the upper lip
upslanting palepebral fissure

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10
Q

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

A

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 - Hereditary neuropathy with pressure palsies
dup CMT1A - Charcot-Marie-Tooth disease

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 cat 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 (loss of sense of smell) and hypogonadotropic hypogonasdism (infertility)

KALL1- sex linked form Xp22
FGFR1- AD form 8p

24
Q

what gene is associated with X-linked ichtyosis and where is it located?

A

STS gene in PAR Xp22
dry scaling of skin due to a steroid sulfatase deficiency

FRC Path 2023 (15 decks)

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