Important Syndromes

Question 1

Alagille syndrome

Answer 1

Chr 20p12 deletion

Question 2

Angelman syndrome

Answer 2

Imprinting of Chr 15q11

Uniparental disomy

Question 3

Beckwith widemann syndrome

Answer 3

Imprinting of Chr 11p15

Question 4

Chediak Higashi syndrome

Answer 4

LYST gene on Chr 1q2

Question 5

Cri du chat syndrome

Answer 5

5p deletion

Question 6

Down symdrome

Answer 6

Trisomy 21

Question 7

Edward syndrome

Answer 7

Trisomy 18

Question 8

Ellis van Crewald syndrome

Answer 8

EVC, EVC 2 gene

Question 9

Fragile X syndrome

Answer 9

Triple nucleotide repeats

Question 10

Hyper IgE syndrome

Answer 10

stat 3

Question 11

Kenny Caffey syndrome

Answer 11

TBCE gene (1q 43-44)

Question 12

Klinefelter syndrome

Answer 12

47XXY

Question 13

Lawrence Moon Bardet Biedel Syndrome

Answer 13

BBS 1 - 12
MKS 1
MKS 3
CEP 290

Question 14

Marfan syndrome

Answer 14

FBN 1 gene Chr 15q21.1

Question 15

Mc cune albright syndrome

Answer 15

Mis sense mutation in gene for α subunit of GS

Question 16

Noonan syndrome

Answer 16

PTPN11 gene

Question 17

Patau syndrome

Answer 17

Trisomy 13

Question 18

Pendred syndrome

Answer 18

gene for Pendrin Chr 7

Question 19

Pierre Robin syndrome

Answer 19

DNA near SOX 9 gene

Question 20

Rubinstein Taybi syndrome

Answer 20

CBP mutations

Question 21

Russell Silver syndrome

Answer 21

Chr 7q32 deletion

Question 22

Soto’s syndrome

Answer 22

Chr 5q35 deletion

Question 23

Treacher Collin syndrome

Answer 23

TCOF 1 gene mutation

Question 24

Turner syndrome

Answer 24

45XO

Question 25

Digeorge syndrome
or
Velo Cardio Facial syn

Answer 25

Chr 22q11 deletion

Question 26

Waardenburg syndrome

Answer 26

PAX3 gene mutation

Question 27

WAGR syndrome

Answer 27

Chr 11p13 deletion

Question 28

William syndrome

Answer 28

Chr 7q11 deletion

Question 29

Wiskott Aldrich syndrome

Answer 29

WASP gene Chr Xp11