KaryoDraw

Chromosome 1q duplication

46,XY,dup(1)(q22q25)

Also known as: partial trisomy 1q, dup(1q)

46,XY,dup(1)(q22q25) shows a duplication on the long arm of chromosome 1, so that segment is present in three copies (a partial trisomy). Duplications add genetic material without losing any.

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Karyotype of Chromosome 1q duplication (46,XY,dup(1)(q22q25))
Chromosome 1q duplication (46,XY,dup(1)(q22q25)) 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)
dup(1)(q22q25)
a DUPLICATION in chromosome 1: the segment 1q22 and 1q25 is present twice

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