microdeletion and microduplication syndromes

Question 1

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

Answer 1

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

Question 2

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

Answer 2

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

Question 3

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

Answer 3

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

Question 4

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

Answer 4

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

Question 5

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

Answer 5

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

Question 6

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

Answer 6

del 5q35
overgrowth
LD, MR, DD
cerebral gigantism

Question 7

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

Answer 7

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

Question 8

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

Answer 8

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

Question 9

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

Answer 9

del 9p
MR
long philtrum
upslanting palepebral fissure

Question 10

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

Answer 10

del 9p24.3

loss = XY develop as female

Question 11

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

Answer 11

del 11p13
PAX6 - anirida
WTS= wilms tumour

Question 12

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

Answer 12

del 11q23
DD and ID
ADHD
compulsive behaviour

Question 13

what is the chromosome region and phenotype associated with retinoblastoma?

Answer 13

del 13q14
loss of RB gene
retinoblastoma

Question 14

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

Answer 14

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

Question 15

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

Answer 15

15q11.2q11.3

Question 16

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

Answer 16

17p12
del HNPP
dup CMT1A

Question 17

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

Answer 17

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

Question 18

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

Answer 18

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

Question 19

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

Answer 19

del20p12
pulmonary stenosis
insufficient development of bile duct

Question 20

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

Answer 20

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

Question 21

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

Answer 21

22q11.2

heart defects- TOF

Question 22

what phenotype is associated with SHOX del?

Answer 22

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

Question 23

What is the phenotype of Kallman syndrome and causative genes?

Answer 23

anosmia and hypogonadotropic hypogonasdism (infertility)

KALL1- sex linked form
FGFR1- AD form

Question 24

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

Answer 24

STS gene in PAR

dry scaling of skin due to a steroid sulfatase deficiency