Abbreviations Flashcards

1
Q

Cen

A

Centromere

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2
Q

Del= (e.g. 46, XX, del (5p))

A

Deletion

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3
Q

Der (e.g. der(1))

A

derivative chromosome—translocation chromosome derived from

chromosome 1

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4
Q

Dup

A

duplication

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5
Q

Fra = (e.g. 46, Y, fra (X)(q27.3))

A

Fragile site

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6
Q

Ins

A

insertion

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7
Q

Inv = (e.g. inv(3)(p25q21))

A

inversion—pericentric inversion of chromosome 3)

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8
Q

Mar = (47 XX +mar)

A

Marker (unidentifiable) chromosome

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9
Q

Mat

A

maternal origin

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10
Q

Pat

A

paternal origin

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11
Q

T: (46, XX, t(2;8)(q22;p21)

A

—translocation of 2q22 and 8p21)

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12
Q

Ter

A

the end of a chromosome arm

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13
Q

+ (e.g. 47 XX +21)

A

gain of

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14
Q

-= (45 XX, -22)

A

loss of

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15
Q

/ = (46, XX/47, XXY)

A

mosaic

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