inheritance for some diseases Flashcards

1
Q

haemochromatosis

A

AR

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2
Q

huntingtons

A

AD

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3
Q

gilberts

A

AR

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4
Q

FAP

A

AD

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5
Q

HNPCC/lynch

A

AD

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6
Q

gardners

A

AD

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7
Q

alpha 1 antitrypsin deficiecny

A

AR

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8
Q

wilsons

A

AR

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9
Q

polycystic kidneys

A

AD

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10
Q

otosclerosis

A

AD

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11
Q

hereditary haemorrhagic telangiectasia

A

AD

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12
Q

androgen insensitivity syndrome

A

x linked recessive

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13
Q

kallman

A

XLR

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14
Q

karyotype of kleinefelters

A

47 XXY male

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15
Q

karyotype of turners

A

45 X

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16
Q

bilateral adrenal hyperplasia

A

AR

17
Q

MODY

A

AD

18
Q

familial hypocalciuric hypocalcaemia

A

AD

19
Q

sickle cell anaemia

A

AR

20
Q

Acute intermittent porphyria (AIP)

A

AD

21
Q

G6PD

A

x linked recessive

22
Q

hereditary spherocytosis

A

autosomal dominant

23
Q

Heredity hemorrhagic telangiectasia (HHT)

A

AD

24
Q

von willebrand

A

AD

25
Q

sideroblastic anaemia

A

XLR

26
Q

genotype of a+ thalassaemia trait

A

1/4 alpha chains deleted

27
Q

genotype of a0 thalassaemia trait

A

2/4 alpha chains deleted

28
Q

genotype of a thalassaemia (HbH disease)

A

3/4 alpha chains deleted

29
Q

genotype of Hb Barts Hydrops foetalis

A

all alpha chains deleted –> IUD

30
Q

fanconi anaemia

A

AR

31
Q

marfans

A

AD

32
Q

achondroplasia

A

AD but 80% sporadic

33
Q

osteogenesis imperfecta (brittle bone)

A

AD

34
Q

ehlers danlos

A

AD