Sex Chromosome Aneuploidy Flashcards

1
Q

Considered together, are the MC chromosome abnormalities seen in liveborn infants, children, and adults

A

Sex chromosome abnormalities

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2
Q

45,X

A

Turner syndrome

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3
Q

47,XXY

A

Klinefelter

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4
Q

47,XXXY

A

Klinefelter

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5
Q

Condition characterized by complete or partial monosomy of the X chromosome and defined by a combination of phenotypic features

A

Turner syndrome

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6
Q

T/F Maternal age is a predisposing factor for children with 45,X

A

F

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7
Q

SGA, Webbing of neck, protruding ears, lymphedema of hands and feet

A

Turner

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8
Q

Puberty occurs at a normal age but testes remain small

A

Klinefelter

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9
Q

Mental retardation, autistic behavior, macro-orchidism

A

Fragile X

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10
Q

Primary amenorrhea

A

Turner

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11
Q

Lack of secondary female sex characteristics

A

Turner

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12
Q

Involve the RAS-MAPK pathway

A

Noonan

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13
Q

Late secondary male sex characteristics

A

Klinefelter

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14
Q

Long face, large ears, prominent square jaw

A

Fragile X

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15
Q

MC heart defects in Turner syndrome

A

Bicuspid aortic valves, COA, AS, MVP

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16
Q

Gonadal dysgenesis (gonads are streaks of fibrous tissue

A

Turner

17
Q

T/F Persons with Klinefelter syndrome are phenotypically male

A

T

18
Q

MCC of hypogonadism and infertility in males

A

Klinefelter syndrome

19
Q

MC sex chromosome aneuploidy in humans

A

Klinefelter syndrome

20
Q

T/F Patients with Klinefelter syndrome develop gynecomastia

A

T, 50%

21
Q

Each additional X chromosome in Klinefelter syndrome reduces the IQ by ___

A

10-15 points

22
Q

Accounts for 3% of males with mental retardation

A

Fragile X