Robertsonian translocation 14;21
45,XY,rob(14;21)(q10;q10)
Also known as: rob(14;21), translocation Down carrier
45,XY,rob(14;21)(q10;q10) is a balanced Robertsonian translocation carrier. The person is healthy, but the translocation is a familial cause of translocation Down syndrome in offspring.
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What the notation means
45- total chromosome count (normal is 46)
XY- sex chromosomes: one X, one Y (usual male karyotype)
rob(14;21)(q10;q10)- a ROBERTSONIAN translocation: the long arms of chromosomes 14 and 21 are fused at the centromere into one derivative chromosome, and the two short arms are lost. They are written lowest-number-first by convention, not by which centromere is kept; whole-arm fusions like this are usually dicentric, with one centromere inactivated