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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del(5)
5
What the notation means
46- total chromosome count (the normal human number)
XY- sex chromosomes: one X, one Y (usual male karyotype)
del(5)(p15.2)- 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 ('5pā'). High-pitched cat-like cry in infancy, microcephaly, hypotonia, intellectual disability.