genetics Flashcards by evelyn zielinski

Q

CAH

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

achondroplasia

A

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

vitamin d resistant rickets

A

XLD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Fabry’s

A

XLR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

wiskott aldrich syndrome

A

XLR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

ocular albinism

A

XLR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

von hippel lindau disease

A

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

detection rate maternal age alone

A

30%

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

CF

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

incidence live birth rate patau’s syndrome

A

1/5000

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

tay-sachs

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

beta-thalassemia

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

incidence live birth rate triple x

A

1/1000

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

incidence live birth rate down syndrome

A

1/700

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

alpha-1-antitrypsin deficiency

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

ehlers danlos

A

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

becker’s muscular dystrophy

A

XLR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

combined screening test

A

NT, bHCG, PAPPA + mat age

11-13+6

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

SCD

A

AR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

hemophilia

A

XLR

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

detection rate combined test

A

90%

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

familial adenomatous polyposis coli

A

AD

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

dubin-johnson syndrome

Study These Flashcards

A

AR

Q

fragile x syndrome

Study These Flashcards

A

XLR

familial hypercholesterolemia

AD

ataxia telengiectasia

AR

NF type 1 and 2

AD

G6PD

XLR

incidence live birth rate turner syndrome

1/2500

incidence live birth rate edward syndrome

1/3000

marfan syndrome

AD

PKU

AR

gilberts syndrome

AD

DMD

XLR

detection rate quad test

70-75%

alkaptonuria

AR

glycogen storage diseases

AR

fanconi's anemia

AR

incidence live birth rate multiple y

1/1000

wilson disease

AR

incidence live birth rate klinefelters

1/1000

red-green colour blindness

XLR

vWD (Type 1 and 2)

AD

galactosemia

AR

BRCA

AD

hemochromatosis

AR

spinal muscular atrophy

AR

homocystinuira

AR

hunter's syndrome

XLR

myotonic dystrophy

AD

quad test

bHCG, estriol, AFP, inhibin A | 15-20/40

APCKD

AD

tuberous sclerosis

AD

detection rate triple test

65-70%

huntington's chorea

AD

Rett syndrome

XLD

testicular feminisation syndrome

XLR