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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What banding sees: Most 1p36 deletions are too small to see with banding, so the diagnosis is usually made by microarray or FISH rather than by a karyotype. The drawing above shows where the missing segment lies, not what would be visible down a microscope.