Which gene/chromosome? Flashcards

1
Q

Rett syndrome
gene and chromosome

A

MECP2 gene (Xq28)

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1
Q

Lesch-Nylan syndrome

A

HPRT gene on X chromosome

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2
Q

angelman/prader willi

A

15q11

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3
Q

cri du chat

A

5p
wolf and cat crying about losing 4 and 5p

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4
Q

velocardiofacial (di george)

A

22q deletion

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5
Q

smith magenis

A

17p11

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6
Q

wolf hirschhorn

A

4p
wolf and cat crying about losing 4 and 5p

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7
Q

tuberous sclerosis

A

9q and 16p

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8
Q

williams

A

7q11 deletion

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9
Q

klinefelt

A

extra X 47XXY

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10
Q

jacob’s syndrom

A

extra Y 47 XYY

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11
Q

coffin-lowry syndrome

A

xp22

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12
Q

turner

A

45X0

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13
Q

niemann pick disease

A

11p15

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14
Q

genes in schizophrenia?

A

DTNBP1 (dysbindin) - chromosome 6 (6p 22.3)
COMT - chromosome 22
NRG1(neuregulin 1) - chromosome 8 (8p 21-22)
G72 - chromosome 13
RGS4 - chromosome 1
DAOA - chromosome 13
DISC1 - chromosome 1
DRD2 - chromosome 11

COMT is the strongest schizophrenia candidate among approximately 27 genes in a 1.5-3 million nucleotide region of chromosome 22 that is deleted in Velocardiofacial disorder. About 20% of Velocardiofacial disorder patients have schizophrenia or psychosis.

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15
Q

huntington’s

A

htt chromosome 4

16
Q

Familial Frontotemporal dementia

A

C9orf72 (chromosome 9)

17
Q

lewy body

A

snca
chromosome 4

18
Q

genes in dyslexia

A

DCDC2
DYX1C1
KIAA0319
GCFC2
MRPL19
ROBO1

19
Q

adhd

A

drd4 drd5