Chromosome Diseases Flashcards

1
Q

chromosome 1

A
Most known Genetic diseases
Alzeihmers disease
Charcot Marie Tooth Disease
Galactosemia
Homocystinuria
Prostate cancer
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2
Q

Chromosome 2

A
Important role in Human intelligence
Alport syndrome
ALS
Ehler Danlos syndrome
HNPCC
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3
Q

Chromosome 3

A

Alkaptonuria
Von Hippel Lindau syndrome
Susceptibility/ Resistance to HIV

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4
Q

Chromosome 4

A

Achondroplasia

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5
Q

Chromosome 5

A

Familial Adenomatous Polyposis

Cri Du Chat syndrome

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6
Q

Chromosome 6

A

MHC complex
AR Polycystic Kidney disease
Porphyria Cutanea Tarda

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7
Q

Chromosome 7

A

Contain Homeobox A gene Cluster
Cystic Fibrosis 7q
Williams syndrome 7q

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8
Q

Chromosome 8

A

Burkitt’s Lymphoma

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9
Q

Chromosome 9

A

Friedrich Ataxia
Tuberous Sclerosis
Inheritance of Blood groups
HOCM

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10
Q

Chromosome 10

A

Hirschprungs disease

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11
Q

Chromosome 11

A
Olfactory Receptor genes
Ataxia telengiectasia
Beckwith widemann syndrome
MEN type 1
WT-1 gene
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12
Q

Chromosome 12

A

Contain Homeobox C gene cluster
Tyrosinemia
Noonan Syndrome

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13
Q

Chromosome 13

A

Retinoblastoma
Wilson disease
Patau syndrome

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14
Q

Chromosome 14

A

Alpha 1 antitrypsin def
Familial HOCM
Meniere’s Disease

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15
Q

Chromosome 15

A

Angelman syndrome

Praderwilli syndrome

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16
Q

Chromosome 16

A

AD Polycystic Kidney
Pseudoxanthoma elasticum
Autism

17
Q

Chromosome 17

A

Contain Homeobox B gene cluster
Li Fraumeni syndrome
Neurofibromatosis type 1
BRCA 1

18
Q

Chromosome 18

A

Edwards syndrome

19
Q

Chromosome 19

A

Peutz jhegar syndrome
Insulin Receptor
Myotonic Dystrophy

20
Q

Chromosome 20

A

Adenosine Deaminase deficiency (SCID)
Alagille syndrome
DM type 1

21
Q

Chromosome 21

A

Smallest Human Chromosome
AML
Down syndrome

22
Q

Chromosome 22

A

First Human chromosome to be fully sequenced
Philadelphia chromosome
CAtch 22 syn
Neurofibromatosis type 2