Chromosomal Disorders (Aneuploidy, Microdeletons)

Question 1

1p36 deletion syndrome

Answer 1

ID
Seizures
Microbrachycephaly (wide, small head)

Question 2

Wolf-Hirschorn Syndrome clinical features

Answer 2

characteristic facial features (greek warrior helmet - broad, flat nasal bridge and high forehead, widely spaced eyes, short philtrum, ear pits or tags)
ID/DD
seizures

Question 3

Wolf Hirschorn location

Answer 3

4p

Question 4

Cri du chat clinical features

Answer 4

high pitched, cat-like cry
ID/DD
microcephaly

Question 5

cri du chat deletion location

Answer 5

5p

Question 6

williams syndrome clinical features

Answer 6

"Cocktail personality" - overfriendliness
supravalvular aortic stenosis
distinctive facial features (elfin)
ID
hypercalcemia

Question 7

Williams syndrome critical gene/deletion region

Answer 7

ELN

7q11

Question 8

WAGR syndrome clinical features

Answer 8

Wilms tumor
Aniridia
Genitourinary anomalies
ID

Question 9

WAGR critical genes and deletion location

Answer 9

WT1, PAX6

11p

Question 10

Jacobsen syndrome clinical features

Answer 10

DD/ID
behavioural problems
ADHD
dysmorphic facial features
bleeding disorder

Question 11

Jacobsen syndrome deletion syndrome

Answer 11

11q

Question 12

Smith-Magenis syndrome

Answer 12

ID
delayed speech
sleep and behavioural problems
self injury and self hugging
"lick and flip" behaviour - compulsively lick fingers and flip pages of books

Question 13

Smith-Magenis deletion region

Answer 13

17p11

Question 14

Hereditary neuropathy with liability to pressure palsies clinical features

Answer 14

recurrent episodes of numbness, tingling, loss of muscle function

Question 15

hereditary neuropathy with liability to pressure palsies deletion region

Answer 15

17p del

same region as CMT

Question 16

Miller Dieker syndrome clincal features

Answer 16

lissencephaly
ID/DD
seizures
dysmorphic features

Question 17

Miller Dieker syndrome deletion region

Answer 17

17p del

Question 18

Koolen de Vries syndrome clinical features

Answer 18

DD/ID
cheerful disposition
epilepsy

Question 19

Koolen de Vries deletion region/critical gene

Answer 19

17q

KANSL1

Question 20

22q11 deletion syndrome clinical features

Answer 20

congenital heart defects - 65% (ventricular septal defect, tetraology of fallot, aortic arch anomalies, truncus arteriosis)

cleft palate
bifid uvula
hypocalcemia
hypoparathyroidism
immune deficiency
learning difficulties
hearing loss
schizophrenia (25%)
autism

Question 21

22q11.2 deletion syndrome critical gene

Answer 21

TBX1

Question 22

Cat eye syndrome clinical features

Answer 22

Coloboma
Anal atresia
skin tags/pits
ID/DD

Question 23

Cat eye syndrome cause

Answer 23

22q11 duplication