KaryoDraw

Direct insertion ins(2;5)

46,XY,ins(2;5)(q14.2;q22q31)

Also known as: insertion, ins(2;5), interchromosomal insertion

46,XY,ins(2;5)(q14.2;q22q31) is a direct interchromosomal insertion: the segment of chromosome 5 between bands 5q22 and 5q31 is removed and inserted into chromosome 2 at band 2q14.2. The carrier is balanced, but the inserted segment can segregate on its own, so a child can inherit a pure duplication or a pure deletion of 5q22-q31.

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Karyotype of Direct insertion ins(2;5) (46,XY,ins(2;5)(q14.2;q22q31))
Direct insertion ins(2;5) (46,XY,ins(2;5)(q14.2;q22q31)) drawn by KaryoDraw, showing the involved chromosomes with their normal homolog.

What the notation means

46
total chromosome count (the normal human number)
XY
sex chromosomes: one X, one Y (usual male karyotype)
ins(2;5)(q14.2;q22q31)
an INSERTION: the segment between 5q22 and 5q31 of chromosome 5 is moved into chromosome 2 at 2q14.2. Chromosome 2 grows by that piece; chromosome 5 loses it.

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