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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What the notation means
46count,XYsex chromosomes,dup(1)(q22q25)abnormality
The shape of this abnormality
dupsymbol(1)chromosomes(q22q25)breakpoints
- (1)
- one chromosome, so one group of breakpoints follows.
- (q22q25)
- the two bands that bound the segment, written pter to qter; the reverse order means the extra copy is inverted.
- count · sex chromosomes
- a normal count and the usual male sex chromosomes
- abnormality
- a DUPLICATION in chromosome 1: the segment between 1q22 and 1q25 is present twice