5q minus syndrome (MDS)
46,XX,del(5)(q13q33)
Also known as: del(5q), 5q- syndrome
46,XX,del(5)(q13q33) is an interstitial deletion of the long arm of chromosome 5, the defining lesion of the 5q minus subtype of myelodysplastic syndrome. It responds well to lenalidomide and generally has a favorable course.
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What the notation means
46- total chromosome count (the normal human number)
XX- sex chromosomes: two X (usual female karyotype)
del(5)(q13q33)- an interstitial DELETION in chromosome 5: the segment between 5q13 and 5q33 is missing