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

A

AR

Q

MODY

A

AD

Q

familial hypocalciuric hypocalcaemia

A

AD

Q

sickle cell anaemia

A

AR

Q

Acute intermittent porphyria (AIP)

A

AD

Q

G6PD

A

x linked recessive

Q

hereditary spherocytosis

A

autosomal dominant

Q

Heredity hemorrhagic telangiectasia (HHT)

A

AD

Q

von willebrand

A

AD

Q

sideroblastic anaemia

A

XLR

Q

genotype of a+ thalassaemia trait

A

1/4 alpha chains deleted

Q

genotype of a0 thalassaemia trait

A

2/4 alpha chains deleted

Q

genotype of a thalassaemia (HbH disease)

A

3/4 alpha chains deleted

Q

genotype of Hb Barts Hydrops foetalis

A

all alpha chains deleted –> IUD

Q

fanconi anaemia

A

AR

Q

marfans

A

AD

Q

achondroplasia

A

AD but 80% sporadic

Q

osteogenesis imperfecta (brittle bone)

A

AD

Q

ehlers danlos

A

AD