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CSF > Genetics Vocabulary > Flashcards

Genetics Vocabulary Flashcards

1
Q

Phenotype

A

the observable expression of a genotype as a physical, medical, cellular, or biochemical trait

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2
Q

Aneuploidy

A

any abnormal number of chromosomes (other than 46 in humans)

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3
Q

Monosomy

A

having one less than the normal number of chromosomes (45 in humans)

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4
Q

Trisomy

A

having one more than the normal number (47 in humans)

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5
Q

Haploid

A

the normal number of chromosomes in a gamete (egg or sperm) (23 in humans)

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6
Q

Diploid

A

the normal number of chromosomes in somatic cells (46 in humans)

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7
Q

Disomy

A

the normal number of homologous chromosomes (2) per cell

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8
Q

Triploid

A

three homologous chromosomes in each set (69 in humans)

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9
Q

Chromatids

A

copies of chromosomes arising from DNA replication early in the cell cycle. (These become the chromosomes of the daughter cells.)

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10
Q

Nondisjunction

A

meiotic error in which homologs (meiosis I) or chromatids (meiosis II) fail to separate, resulting in abnormal chromosome segregation in the gametes.

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11
Q

Mosaicism

A

the presence of two or more different chromosome complements in an individual, can occur as the result of nondisjunction in mitosis or trisomy rescue

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12
Q

Trisomy rescue

A

the postzygotic loss of an extra chromosome, resulting in reversion of a trisomic cell to the disomic state

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13
Q

Reciprocal translocation

A

an exchange of material between two nonhomologous chromosomes

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14
Q

Balanced translocation

A

one with no net gain or loss of genetic material

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15
Q

Unbalanced translocation

A

one which results in partial monosomy and/or trisomy

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16
Q

Robertsonian translocation

A

a fusion of the long arms of two acrocentric chromosomes (4-5% cases of Down syndrome are due to Robertsonian translocations between chromosome 21 and chromosome 13, 14, or 15)

17
Q

Deletion

A

loss of some chromosomal material resulting in partial monosomy

18
Q

Duplication

A

presence of an extra copy of a portion of a chromosome resulting in partial trisomy

19
Q

Inversion

A

rearrangement of chromosomal material in which a portion is placed “upside down” as a result of two breaks within that chromosome

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