Important Syndromes Flashcards
1
Q
Alagille syndrome
A
Chr 20p12 deletion
2
Q
Angelman syndrome
A
Imprinting of Chr 15q11
Uniparental disomy
3
Q
Beckwith widemann syndrome
A
Imprinting of Chr 11p15
4
Q
Chediak Higashi syndrome
A
LYST gene on Chr 1q2
5
Q
Cri du chat syndrome
A
5p deletion
6
Q
Down symdrome
A
Trisomy 21
7
Q
Edward syndrome
A
Trisomy 18
8
Q
Ellis van Crewald syndrome
A
EVC, EVC 2 gene
9
Q
Fragile X syndrome
A
Triple nucleotide repeats
10
Q
Hyper IgE syndrome
A
stat 3
11
Q
Kenny Caffey syndrome
A
TBCE gene (1q 43-44)
12
Q
Klinefelter syndrome
A
47XXY
13
Q
Lawrence Moon Bardet Biedel Syndrome
A
BBS 1 - 12
MKS 1
MKS 3
CEP 290
14
Q
Marfan syndrome
A
FBN 1 gene Chr 15q21.1
15
Q
Mc cune albright syndrome
A
Mis sense mutation in gene for α subunit of GS