introduction Flashcards

exam 1

1
Q

outward appearance of an individual

A

phenotype

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2
Q

genetic make up of an individual

A

genotype

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3
Q

particular copy of a gene on a chromosome

A

allele

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4
Q

present at birth, usually in all cells

A

constitutional

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5
Q

present at birth, often before birth

A

congenital

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6
Q

passed on from a parent

A

inherited

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7
Q

genetic alteration causing disease

A

pathogenic

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8
Q

term used in clinical genetics

A

congenital

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9
Q

term used more in cancer

A

constitutional

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10
Q

occurring in the body, but not in the gametes

A

somatic

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11
Q

occurring in the testis or ovary, could be passed on

A

germline

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12
Q

parent of a child with a recessive condition

A

obligate carrier

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13
Q

two or more cell lines in one person

A

mosaic

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14
Q

mix of cells from two individuals

A

chimera

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15
Q

bone marro transplant an example of _______

A

chimera

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16
Q

change happens after birth, usually associated with cancer

17
Q

essential for counseling, establishment of mode of inheritance

18
Q

your generation

19
Q

consanguinity in ___ ____ or closer

A

second cousin

20
Q

increases offspring chances of having an autosomal recessive disorder

A

consanguinity