Chromosomal Abberations Flashcards

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1
Q

sex-linked traits

A

traits linked to genes on x and y chromosomes

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2
Q

sex-influenced traits

A

expressed in both sexes, but controlled by differing hormone levels in males v. females

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3
Q

sex-limited traits

A

traits expressed in only one sex because of hormonal influence

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4
Q

Lyon effect

A

x cs inactivation

-affects all X chromosomes in excess of one cs per cell during very early embryonic development

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5
Q

barr body

A

-inactive x chromosome in the female cell

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6
Q

XIST protein

A
  • gene on x cs produces XIST RNA
  • coats excess X cs which leads to inactivation
  • some genes on inactive x cs are still active and are able to transcribe
  • once they are acted on, the cs’ genes are passed to the next generation of cells within the organism in the same inactive or activated state
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7
Q

X- chromosome inactivation

A
  • affects all X cs in excess of one cs per cell during very early embryonic development
  • forms barr bodies depending on the number of x chromosomes
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8
Q

mosaic

A

-some heterozygous states may cause non-uniform phenotypes
-ex calico cat, weird sweat glands
-

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9
Q

nondisjunction

A
  • changes in cs number
  • error in which cs failed to properly separate in mitosis or meiosis I or II
  • mitosis can result in organisms mosaic phenotype
  • error in gamete(egg or sperm) which causes entire orgamism to be errored and which can be related to teh mothers age or environmental influence
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10
Q

monosomy

A

lack of one chromosome which is lethal so spontaneosuly abortion

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11
Q

trisomy

A

-addition of a cs
-most are lethal which results in spontaneous abortion or they die shortly after birth
1. Trisomy 13/18 are multi system errors which make extra proteins
they could birth but they die
2. Trisomy 21 is downs syndrome which is viability

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12
Q

sex chromosome errors

A
  • result in error of entire organism

- generally viable

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13
Q

Klinefelter syndrome

A
  • sex cs error
  • 47 XXY
  • male breast tissue develops
  • tested not fully developed
  • lower IQ
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14
Q

Turner syndrome

A
  • sex cs error
  • 45, XO
  • female, shorter, undiffernetiated gonads, ovarian streaks do not turn into the ovary
  • stay prepubescent bc ovary does not make progesterin or estrogen
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15
Q

Jacob Syndrome

A
  • sex cs errror
  • 47 XYY
  • tall, lower IQ, not really noticable
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16
Q

poly X(meta female syndrome)

A
  • sex error cs
  • 47 XXX
  • tripolid
  • spaitial relationship problems
  • not noticable
17
Q

polyploid

A

-any abnormal multiple of N
-generally will spontaneously abort if birthed, will die shortly after birth
ex 46 dipolid
69 triploid
92 tetraploid