Unit 6: Karyotype Notations

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13 Terms

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Karyotype

A visual display of chromosomes arranged by size

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Purpose of karyotype

Detect chromosome abnormalities and determine sex

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Autosomes

Chromosomes 1 through 22

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Sex chromosomes

X and Y chromosomes

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Healthy male notation

2N XY

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Healthy female notation

2N XX

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Monosomy notation

2N-1 plus missing chromosome

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Trisomy notation

2N+1 plus extra chromosome

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Trisomy 21

Extra chromosome 21

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When karyotypes are made

During metaphase

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Numerical chromosomal mutation

Change in chromosome number

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Structural chromosomal mutation

Deletion duplication inversion or translocation

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What karyotypes cannot detect

Single gene mutations