genetics Flashcards by evelyn zielinski

Q

CAH

A

AR

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Q

achondroplasia

A

AD

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Q

vitamin d resistant rickets

A

XLD

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Q

Fabry’s

A

XLR

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Q

wiskott aldrich syndrome

A

XLR

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Q

ocular albinism

A

XLR

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Q

von hippel lindau disease

A

AD

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Q

detection rate maternal age alone

A

30%

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Q

CF

A

AR

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Q

incidence live birth rate patau’s syndrome

A

1/5000

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Q

tay-sachs

A

AR

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Q

beta-thalassemia

A

AR

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Q

incidence live birth rate triple x

A

1/1000

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Q

incidence live birth rate down syndrome

A

1/700

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Q

alpha-1-antitrypsin deficiency

A

AR

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Q

ehlers danlos

A

AD

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Q

becker’s muscular dystrophy

A

XLR

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Q

combined screening test

A

NT, bHCG, PAPPA + mat age

11-13+6

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Q

SCD

A

AR

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Q

hemophilia

A

XLR

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Q

detection rate combined test

A

90%

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Q

familial adenomatous polyposis coli

A

AD

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Q

dubin-johnson syndrome

A

AR

Q

fragile x syndrome

A

XLR

Q

familial hypercholesterolemia

A

AD

Q

ataxia telengiectasia

A

AR

Q

NF type 1 and 2

A

AD

Q

G6PD

A

XLR

Q

incidence live birth rate turner syndrome

A

1/2500

Q

incidence live birth rate edward syndrome

A

1/3000

Q

marfan syndrome

A

AD

Q

PKU

A

AR

Q

gilberts syndrome

A

AD

Q

DMD

A

XLR

Q

detection rate quad test

A

70-75%

Q

alkaptonuria

A

AR

Q

glycogen storage diseases

A

AR

Q

fanconi’s anemia

A

AR

Q

incidence live birth rate multiple y

A

1/1000

Q

wilson disease

A

AR

Q

incidence live birth rate klinefelters

A

1/1000

Q

red-green colour blindness

A

XLR

Q

vWD (Type 1 and 2)

A

AD

Q

galactosemia

A

AR

Q

BRCA

A

AD

Q

hemochromatosis

A

AR

Q

spinal muscular atrophy

A

AR

Q

homocystinuira

A

AR

Q

hunter’s syndrome

A

XLR

Q

myotonic dystrophy

A

AD

Q

quad test

A

bHCG, estriol, AFP, inhibin A

15-20/40

Q

APCKD

A

AD

Q

tuberous sclerosis

A

AD

Q

detection rate triple test

A

65-70%

Q

huntington’s chorea

A

AD

Q

Rett syndrome

A

XLD

Q

testicular feminisation syndrome

A

XLR