Chapter 7 Flashcards

1
Q

monosomy

A

-absence of a chromosome in a cell

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2
Q

trisomy

A

-presence of an extra chromosome in a cell

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3
Q

Turner’s syndrome

A
  • absence of one X chromosome
  • most common in females
  • infertile, short, low estrogen
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4
Q

Triple X syndrome

A
  • extra X chromosome

- most common in females

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5
Q

Klinefelter’s syndrome

A
  • extra X chromosome
  • most common in men
  • infertile, underdeveloped, more feminine build
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6
Q

XYY syndrome

A
  • extra Y chromosome

- most common in males

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7
Q

Down syndrome

A
  • most common chromosomal abnormality
  • trisomy of small chromosome 21
  • 1 in 50 if mother is >40 years old
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8
Q

harmful drug to fetus: A

A

no risk to fetus

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9
Q

harmful drug to fetus: B

A

-no evidence of risk to fetus

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10
Q

harmful drug to fetus: C

A

-risk to fetus cannot be ruled out

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11
Q

harmful drug to fetus: D

A
  • positive evidence of risk to fetus

- drug is needed to treat patients and there is no safer alternative

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12
Q

harmful drug to fetus: X

A
  • absolutely contraindicated in pregnancy

- Accutane

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13
Q

amniocentesis

A
  • usually performed between 14th and 18th week of pregnancy
  • primary use: prenatal detection of chromosomal abnormality
  • indications: over 35, pervious child with down syndrome, known chromosome abnormality, risk of fetal genetic disease
  • complications: ruptured membrane, preterm labor, infection
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14
Q

chorionic villus sampling (CVS)

A
  • small catheter inserted through cervix to the site where villi are attached on the uterus
  • usually performed between 8th and 10th week
  • complication: spontaneous abortion, limb deformities in fetus
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