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abgc > Misc. 3 > Flashcards

Misc. 3 Flashcards

1
Q

What percentage of male infertility is accounted for by chromosomal abnormalities?

A

5%

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2
Q

What are the 4 chromosomes involved in Robertsonian translocation Down syndrome (along with 21)?

A

14, 22, 13, 15

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3
Q

If a woman has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?

A

10%

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4
Q

If a man has a 14;21 Robertsonian translocation, what is the risk to have a liveborn baby with T21?

A

2.5%

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5
Q

What percentage of prelingual hearing loss has a genetic origin?

A

50 - 60%

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6
Q

Is prelingual hearing loss more commonly of AD or AR inheritance?

A

AR

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7
Q

Is postlingual hearing loss more commonly of AD or AR inheritance?

A

AD

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8
Q

Is genetic hearing loss usually syndromic or non-syndromic?

A

non-syndromic (70% of cases)

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9
Q

Tetralogy of Fallot
features
cause(s)

A

CHD w/4 defects and cyanosis

  • VSD
  • pulmonary stenosis
  • right ventricular hypertrophy
  • overriding aorta
  • more common with T21 and DiGeorge
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10
Q

marker chromosome

A

a small chromosome containing a centromere which often exists in a mosaic state and may or may not create an imbalance and result in abnormalities

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11
Q

pleiotropy

A

when one gene influences multiple, seemingly unrelated, phenotypic traits

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12
Q

Caudal regression on ultrasound is most likely indicative of:

A

maternal diabetes

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13
Q

Which conditions involve CAG repeat expansion?

A
  • Huntington’s

- Spinocerebellar ataxia

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14
Q

Fragile X repeat

A

CGG

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15
Q

Myotonic dystrophy repeat

A

CTG

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16
Q

Friedrich repeat

A

GAA

17
Q

Which of the repeat disorders involve the coding region of a gene?

A
  • Huntington’s

- Spinocerebellar ataxia

18
Q

What is the pattern of PAPP-A throughout pregnancy?

A

starts at week 8, rises throughout

19
Q

What is the pattern of hCG throughout pregnancy?

A

increases early, decreases over weeks 10-20

20
Q

What is the pattern of uE3 throughout pregnancy?

A

rises throughout

21
Q

What is the pattern of INH throughout pregnancy?

A

constant over weeks 15-20

22
Q

What is the pattern of AFP throughout pregnancy?

A

increases until week 30-32, then decreases

23
Q

Which analyte is decreased by smoking?

A

uE3

24
Q

Which analyte is increased in diabetics and the overweight?

A

AFP

25
Q

What are the features of a diandric triploid embryo?

A

normal growth; abnormally large, cystic placenta

26
Q

What are the features of a digynic triploid embryo?

A

asymmetric IUGR; adrenal hypoplasia; small placenta

abgc (34 decks)

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