Robertsonian translocation 13;14
45,XX,rob(13;14)(q10;q10)
Also known as: rob(13;14), der(13;14)
45,XX,rob(13;14)(q10;q10) is the most common Robertsonian translocation, a centromeric fusion of chromosomes 13 and 14 that lowers the chromosome count to 45. Carriers are healthy but face reproductive risks.
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What the notation means
45- total chromosome count (normal is 46)
XX- sex chromosomes: two X (usual female karyotype)
rob(13;14)(q10;q10)- a ROBERTSONIAN translocation: the long arms of chromosomes 13 and 14 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