ch 2 Flashcards

1
Q

what are somatic cells and diploid cell

A

contain 46 chromosomes

diploid chromosome has 2 chromate

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2
Q

what are gametes and haploid cell

A

contain 23 chromosomes

haploid each chromosome have 1 chromate

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3
Q

what is meiosis

A

formation of haploid cells from diploid cells

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4
Q

what is mitosis

A

formation of somatic cells

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5
Q

what are autosomes

A

the first 22 of the 23 pairs of chromosomes in males and females

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6
Q

what are sex chromosomes

A

remaining pair of chromosome

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7
Q

what is a triploidy

A

a zygote having three copies of each chromosome

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8
Q

what is a tetraploidy

A

four copies of each

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9
Q

what is chromosome aberrations

A

leading cause of mental retardation and miscarriage

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10
Q

what is aneuploidy

A

a somatic cell that does not contain a multiple of 23 chromosmes

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11
Q

a cell containing 3 copies of one chromosome is

A

trisomy - down syndrome

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12
Q

what is disjunction

A

normal separation of chromosome during cell division

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13
Q

what is nondisjunction

A

usually the cause of aneuploidy

failure of homologies chromosomes to separate normally during meisois or mitosis

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14
Q

what is down sydnrome

A

trisomy 21 auosomal aneuploidy

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15
Q

how many babies are affected with down syndrome

A

1- 800/1000 births

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16
Q

what are manifestation of down syndrome

A

mental retardation
characteristic facial features
cardiovascular problems

17
Q

what do people with down syndrome at increased risk for

A

development of congenital heart disease, acute leukemia and alzheimers disease

18
Q

the risk for having a down syndrome baby

A

risk increases with maternal age- may be related to age of oocyte

19
Q

what is trisomy X

A

a female that has 3 X chromosomes

20
Q

what are the symptoms of trisomy X

A

sterility
menstrual irregularity
mental retardation

symptoms worsen with each additional X

21
Q

what is turner syndrome

A

females with only one X chromosome

22
Q

what are manifestations of turner syndrome

A
short statue
stocky built
crest chest
lack of breast development
congenital heart defects
23
Q

how can you treat turners syndrome

A

growth hormone

estrogen

24
Q

what happens with 99% of turners syndrome

A

spontaneoulsy aborted in first trimester

25
Q

what is klinefelter syndrome

A

individuals with at least two X and one Y chromosome

26
Q

what is one of most common genetic abnomality

A

klinefelters syndrome

27
Q

what are manifestations of klinefelters syndrome

A
tall stature
enlarged beats
sparse body and facial hair
small testes
inabilty to produce sperm
28
Q

how can we treat klinefelters syndrome

A

testosterone