inheritance for some diseases Flashcards by Emma Hill

Q

haemochromatosis

A

AR

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Q

huntingtons

A

AD

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Q

gilberts

A

AR

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Q

FAP

A

AD

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Q

HNPCC/lynch

A

AD

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Q

gardners

A

AD

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Q

alpha 1 antitrypsin deficiecny

A

AR

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Q

wilsons

A

AR

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Q

polycystic kidneys

A

AD

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Q

otosclerosis

A

AD

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Q

hereditary haemorrhagic telangiectasia

A

AD

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Q

androgen insensitivity syndrome

A

x linked recessive

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Q

kallman

A

XLR

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Q

karyotype of kleinefelters

A

47 XXY male

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Q

karyotype of turners

A

45 X

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Q

bilateral adrenal hyperplasia

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A

AR

Q

MODY

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A

AD

Q

familial hypocalciuric hypocalcaemia

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A

AD

Q

sickle cell anaemia

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A

AR

Q

Acute intermittent porphyria (AIP)

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A

AD

Q

G6PD

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A

x linked recessive

Q

hereditary spherocytosis

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A

autosomal dominant

Q

Heredity hemorrhagic telangiectasia (HHT)

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A

AD

Q

von willebrand

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A

AD

sideroblastic anaemia

XLR

genotype of a+ thalassaemia trait

1/4 alpha chains deleted

genotype of a0 thalassaemia trait

2/4 alpha chains deleted

genotype of a thalassaemia (HbH disease)

3/4 alpha chains deleted

genotype of Hb Barts Hydrops foetalis

all alpha chains deleted --> IUD

fanconi anaemia

AR

marfans

AD

achondroplasia

AD but 80% sporadic

osteogenesis imperfecta (brittle bone)

AD

ehlers danlos

AD