Jacobsen syndrome
46,XY,del(11)(q24.1)
Also known as: 11q deletion, 11q terminal deletion
46,XY,del(11)(q24.1) is the karyotype of Jacobsen syndrome, a terminal deletion of the long arm of chromosome 11. It is associated with a bleeding disorder (Paris-Trousseau thrombocytopenia), heart defects, and developmental delay.
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What the notation means
46- total chromosome count (the normal human number)
XY- sex chromosomes: one X, one Y (usual male karyotype)
del(11)(q24.1)- a terminal DELETION of chromosome 11: everything distal to 11q24.1 (out to the tip) is lost