Cri-du-chat syndrome
46,XY,del(5)(p15.2)
Also known as: 5p deletion, 5p minus
46,XY,del(5)(p15.2) is the karyotype of cri-du-chat syndrome, a deletion of the tip of the short arm of chromosome 5. The name comes from the high-pitched, cat-like cry in infancy.
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What the notation means
46count,XYsex chromosomes,del(5)(p15.2)abnormality
The shape of this abnormality
delsymbol(5)chromosomes(p15.2)breakpoints
- (5)
- one chromosome, so one group of breakpoints follows.
- (p15.2)
- one band: everything from it out to the tip is lost (a terminal deletion).
- count · sex chromosomes
- a normal count and the usual male sex chromosomes
- abnormality
- a terminal DELETION of chromosome 5: everything distal to 5p15.2 (out to the tip) is lost
Clinical notes
del(5p), Cri-du-chat syndrome
Terminal deletion of 5p ('5p−'). High-pitched cat-like cry in infancy, microcephaly, hypotonia, intellectual disability.