1p36 deletion syndrome
46,XX,del(1)(p36.3)
Also known as: 1p36 minus, monosomy 1p36
46,XX,del(1)(p36.3) is the karyotype of 1p36 deletion syndrome, the most common terminal deletion syndrome in humans. It is a loss of the tip of the short arm of chromosome 1.
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del(1)
1
What the notation means
46- total chromosome count (the normal human number)
XX- sex chromosomes: two X (usual female karyotype)
del(1)(p36.3)- a terminal DELETION of chromosome 1: everything distal to 1p36.3 (out to the tip) is lost