Karyotype Nomenclature Flashcards

1
Q

cen

A

Centromere

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2
Q

del

A

Deletion

EX: 46,XX,del(5)(q13)

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3
Q

der

A

Derivative chromosome

Ex: der(l)

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4
Q

dic

A

Dicentric chromosome

EX: dic(X;Y)

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5
Q

dup

A

Duplication

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6
Q

inv

A

Inversion

EX: inv(3)(p25q21)

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7
Q

mar

A

Marker Chromosome

EX: 47, XX, +mar

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8
Q

mat

A

Maternal Origin

Ex: 47, XY, +der(I)mat

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9
Q

p

A

Short arm of chromosome

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10
Q

pat

A

Paternal origin

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11
Q

q

A

Long arm of chromosome

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12
Q

r

A

Ring chromosome

Ex: 46,X,r(X)

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13
Q

rob

A

Robertsonian translocation

Ex: rob(14;21)(q10;q10)

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14
Q

t

A

Translocation

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

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15
Q

+

A

Gain of

EX: 47, XX, +21

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16
Q

-

A

Loss of

Ex: 45, XY, -22

17
Q

/

A

Mosaicism

Ex: 46, XX/47,XX,+21