Genetic Conditions Flashcards Preview

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Flashcards in Genetic Conditions Deck (18)
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1
Q

Neurofibromatosis pattern of inheritance?

A

Autosomal dominant OR de novo (50% cases)

2
Q

Neurofibromatosis s/s?

A

Cafe au lait spots, neurofibromas, freckling, optic glioma, bony lesions

3
Q

Huntington disease pattern of inheritance?

A

Autosomal dominant

4
Q

Huntington disease MOA?

A

Loss of cells in basal ganglia

5
Q

Huntington disease s/s?

A

Cognitive changes, movement issues, emotional control issues; onset at 30-50 and deterioration over 10-25 years

6
Q

Neurofibromatosis MOA?

A

NF1 mutation

7
Q

BRCA1 pattern of inheritance?

A

Autosomal dominant

8
Q

Neurofibromatosis, Marfan Syndrome, and Achondroplasia are all examples of conditions that are commonly caused by…

A

De novo mutations

9
Q

Sickle cell disease pattern of inheritance?

A

Autosomal recessive

10
Q

PKU pattern of inheritance?

A

Autosomal recessive

11
Q

DMD pattern of inheritance?

A

X-linked recessive

12
Q

Hemophilia A and B pattern of inheritance?

A

X-linked recessive

13
Q

Hypophosphatemic rickets and incontinentia pigmenti pattern of inheritance?

A

X-linked recessive

14
Q

MELAS is an example of…

A

Mitochondrial disorder

15
Q

Mitochondrial disorders affect…

A

systems with high energy requirements

16
Q

Leber’s hereditary optic neuropathy pattern of inheritance?

A

Mitochondrial inheritance

17
Q

Li-Fraumeni syndrome causes…

A

increased risk of many cancers at a younger age, i.e. breast, osteosarcoma, and soft tissue sarcomas

18
Q

Li-Fraumeni syndrome pattern of inheritance?

A

Autosomal dominant