Noonan syndrome Flashcards

1
Q

inheritance

A

Autosomal dominant

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2
Q

Karyotype

A

normal

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3
Q

On what chromosome does the defective gene lie?

A

chromosome 12

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4
Q

Clinical features (much like a Male turners syndrome)

A

webbed neck
widely-spaced nipples
short stature
pectus carinatum and excavatum
ptosis
triangular-shaped face
low-set ears

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5
Q

Coagulation problem associated with noonan syndrome

A

factor XI deficiency

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6
Q

Cardiac condition associated with noonan syndrome

A

pulmonary valve stenosis

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7
Q
A
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