Chromosome abnormalities

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genetics

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28 Terms

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number or structure

The 2 types of chromosome abnormalities come from an alteration in chromosome ____ or ____

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deletions, duplications, inversions, isochromosomes, ring chromosomes, translocations

list the 6 specific different chromosome abnormalities

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isochromosome

term for a chromosome that has lost one chromosome arm and duplicated the other to fill the empty space, creating a mirror like chromosome over the centromere

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euploid

if a human has 46 chromosomes they are …

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aneuploid

if a human does not have exactly 46 chromosomes they are…

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monosomy

loss of 1 chromosome

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nullisomy

loss of pair of chromosomes

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trisomy

gain of chromosome

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tetrasomy

gain of pair of chromosomes

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anaphase 1 or 2

aneuploidy is caused by the failure of homologs or chromatids to separate during ____ or ____

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non disjunction

term for failure to separate during anaphase

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22

how many autosomal chromosome pairs are there in a euploid human cell?

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autosomal

all chromosomes unrelated to biological sex

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autosomal aneuploidy

Down syndrome, Edward syndrome, and Patau syndrome are all examples of…

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gene dosage theory

what theory describes that 2 copies and only 2 copies of each developmental gene are needed

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age of mother

likelihood of generating aneuploid gamete increase with…

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barr body

name for condensed and inactivated X chromosomes in females

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lyonization

name for the process of inactivating an X chromosome

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duplication

what specific type of chromosome abnormality is the primary mechanism for evolving new functions?

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pericentric and peracentric

What are the 2 types of inversions?

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pericentric

inversion that involves the centromere

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peracentric

inversion that doesnt involve the centromere

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trisomy 21

Down syndrome is caused by ____ on the __ chromosome

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trisomy 18

Edward syndrome is caused by ____ on the __ chromosome

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trisomy 13

Patau syndrome is caused by ____ on the __ chromosome

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XO

Turner syndrome is the ___ state

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XXY

kleinefelter syndrome is the ___ state

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XYY syndrome and Triplo X

what are the 2 other relatively harmless sex chromosome disorders?