Important Syndromes Flashcards

1
Q

Alagille syndrome

A

Chr 20p12 deletion

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2
Q

Angelman syndrome

A

Imprinting of Chr 15q11

Uniparental disomy

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3
Q

Beckwith widemann syndrome

A

Imprinting of Chr 11p15

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4
Q

Chediak Higashi syndrome

A

LYST gene on Chr 1q2

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5
Q

Cri du chat syndrome

A

5p deletion

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6
Q

Down symdrome

A

Trisomy 21

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7
Q

Edward syndrome

A

Trisomy 18

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8
Q

Ellis van Crewald syndrome

A

EVC, EVC 2 gene

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9
Q

Fragile X syndrome

A

Triple nucleotide repeats

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10
Q

Hyper IgE syndrome

A

stat 3

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11
Q

Kenny Caffey syndrome

A

TBCE gene (1q 43-44)

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12
Q

Klinefelter syndrome

A

47XXY

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13
Q

Lawrence Moon Bardet Biedel Syndrome

A

BBS 1 - 12
MKS 1
MKS 3
CEP 290

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14
Q

Marfan syndrome

A

FBN 1 gene Chr 15q21.1

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15
Q

Mc cune albright syndrome

A

Mis sense mutation in gene for α subunit of GS

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16
Q

Noonan syndrome

A

PTPN11 gene

17
Q

Patau syndrome

A

Trisomy 13

18
Q

Pendred syndrome

A

gene for Pendrin Chr 7

19
Q

Pierre Robin syndrome

A

DNA near SOX 9 gene

20
Q

Rubinstein Taybi syndrome

A

CBP mutations

21
Q

Russell Silver syndrome

A

Chr 7q32 deletion

22
Q

Soto’s syndrome

A

Chr 5q35 deletion

23
Q

Treacher Collin syndrome

A

TCOF 1 gene mutation

24
Q

Turner syndrome

A

45XO

25
Q

Digeorge syndrome
or
Velo Cardio Facial syn

A

Chr 22q11 deletion

26
Q

Waardenburg syndrome

A

PAX3 gene mutation

27
Q

WAGR syndrome

A

Chr 11p13 deletion

28
Q

William syndrome

A

Chr 7q11 deletion

29
Q

Wiskott Aldrich syndrome

A

WASP gene Chr Xp11