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MCBM EXAM 5 DANIELLE > Review PP definitions > Flashcards

Review PP definitions Flashcards

1
Q

Are true monosomies found?

A

no they are lethal

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2
Q

What is trisomy 18?

A

Edward syndrome

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3
Q

What is trisomy 13?

A

Patau syndrome

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4
Q

What is XXX sex chromosomes?

A

common abnormal karyotype

super female

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5
Q

What is XO sex chromosomes?

A

Turner Syndrome (only recognized monosomy)

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6
Q

What is XXY sex chromosomes?

A

Klinefelter syndrome

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7
Q

What is XYY sex chromosomes?

A

common abnormal karyotype (supermale)

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8
Q

What is an anomaly?

A

a structural defect of any type

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9
Q

What is malformation?

A

intrinsic, genetic

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10
Q

What is deformation?

A

extrinsic, mechanical

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11
Q

What is disruption?

A

extrinsic, teratogen exposure

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12
Q

What does syndrome mean?

A

multiple anomalies that occur independently but are caused by a single defect

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13
Q

What is sequence?

A

when a structural or mechanical factor leads to multiple secondary effects

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14
Q

What is homologues?

A

identical chromosomes originating from different parents

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15
Q

What are sister chromatids?

A

duplicated copy of each chromosome following S phase; connected at centromere

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16
Q

What is bivalents or tetrads?

A

pair of duplicated homologues…2 pairs of sister chromatids

17
Q

What are chiasmata?

A

regions where bivalents crossover and recombine during prophase I of meiosis

18
Q

What is ploidy?

A

origin of an individual chromosome’s DNA

19
Q

What is haploid?

A

single parent

20
Q

What is diploid?

A

both parents

21
Q

What is heteroploid?

A

anything but haploid or diploid

22
Q

What is euploid?

A

extra full set of chromosomes usually due to polyspermy (triploidy, tetraploidy)

23
Q

Whata is aneuploidy?

A

extra single chromosome due to nondisjunction (trisomy)

24
Q

What is totipotent stem cells?

A

from zygote, can form whole human

25
Q

What is pluripotent stem cells?

A

from blastocyst, can form cell types from all 3 germ layers

26
Q

What are multipotent stem cells?

A

from adult, can form many closely related cell types

27
Q

What does tunicamycin do?

A

blocks the first step in oligosaccharide synthesis

28
Q

What does bacitracin do?

A

blocks phosphatase that recycles dilichol phosphate

29
Q

What is a template?

A

DNA strand used to specify the nucleotides to be incorporated into daughter strand

30
Q

What is a primer?

A

a segment of nucleic acid (RNA or DNA) base paired tot he template and with a free 3’ OH

MCBM EXAM 5 DANIELLE (6 decks)

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