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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dup(1)
1
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