Genetics Flashcards

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1
Q

Most common congenital heart defect in Noonan Syndrome

A

Pulmonary Stenosis

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2
Q

Inheritance of Achondroplasia

A

Autosomal Dominant

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3
Q

Inheritance Pattern of CHARGE

A

Autosomal Dominant

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4
Q

Inheritance Pattern of Ehlers-Danlos

A

Autosomal Dominant

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5
Q

Inheritance Pattern of Marfan syndrome

A

Autosomal dominant

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6
Q

Inheritance Pattern of NF1/NF2

A

Autosomal dominant

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7
Q

Inheritance Pattern of Noonan Syndrome

A

Autosomal dominant

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8
Q

Inheritance Pattern of Denys-Drash

A

Autosomal Dominant

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9
Q

Inheritance Pattern of Li Fraumeni

A

Autosomal dominant

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10
Q

Inheritance Pattern of osteogenesis imperfecta

A

Autosomal dominant

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11
Q

Inheritance Pattern of Treacher Collins

A

Autosomal dominant

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12
Q

Inheritance Pattern of Tuberous Sclerosis

A

Autosomal dominant

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13
Q

Inheritance Pattern of congenital adrenal hyperplasia

A

Autosomal recessive

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14
Q

Inheritance Pattern of CF

A

Autosomal recessive

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15
Q

Inheritance Pattern of sickle cell disease

A

Autosomal recessive

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16
Q

Inheritance Pattern of congenital myasthenia gravis

A

Autosomal recessive

17
Q

Inheritance Pattern of PKU

A

Autosomal recessive

18
Q

Inheritance Pattern of Duchenne Muscular Dystrophy

A

X-linked recessive

19
Q

Inheritance Pattern of Hemophilia A/B

A

X-linked recessive

20
Q

Inheritance Pattern of Incontinentia Pigmenti

A

X-linked dominant

21
Q

Inheritance Pattern of Rett Syndrome

A

X-linked dominant

22
Q

Inheritance Pattern of Fragile X

A

X-linked dominant

23
Q

Inheritance Pattern of Trisomy 21

A

Sporadic