Chapter 13 Flashcards

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1
Q

what is the Telomere on the chromosome?

A

tips of chromosome

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2
Q

the p arm is the

A

short arm

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3
Q

the q arm is the

A

long arm

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4
Q

what is the centromere

A

place where sister chromatids attach

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5
Q

Trisomy

A

one extra chromosome(3 copies)

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6
Q

aneuplodily

A

abnormal number of chrs

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7
Q

monosomy

A

missing one chromosome ( one copy of chrs)

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8
Q

polyploidy

A

complete extra set of chromosomes (not seen in living humans)

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9
Q

deletions

A

missing a PART of a chromosome

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10
Q

duplications

A

extra piece of a chromosome

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11
Q

inversions

A

piece of chrs. gets “flipped” backwards

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12
Q

46, XY

A

normal male

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13
Q

46, XX

A

normal female

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14
Q

45, X

A

Turner syndrome, female

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15
Q

47, XXY

A

Klinefelter’s syndrome , male

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16
Q

46, XY del(7q7)

A

deletion of band 7 on long arm

17
Q

methods for genetic testing of a fetus

A

aminocentesis, chronionic villus sampling, fetal cell sampling

18
Q

aminocentesis

A

fetal cells suspended in the aminotic fluid are sampled

19
Q

chronionic villus sampling

A

cells of the chorion are sampled

20
Q

fetal cell sorting

A

fetal cells in the maternal blood steam are sampled