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.
Open in the interactive visualizer →
What the notation means
45count,XYsex chromosomes,rob(14;21)(q10;q10)abnormality
The shape of this abnormality
robsymbol(14;21)chromosomes(q10;q10)breakpoints
- (14;21)
- the two acrocentric chromosomes fused at the centromere, the lower number first.
- (q10;q10)
- q10 and q10: the long arms joined at the centromere, the short arms lost.
- count
- total chromosome count (normal = 46)
- sex chromosomes
- sex chromosomes: one X, one Y (usual male karyotype)
- abnormality
- 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. When a fusion is PROVEN dicentric it is written dic, with the breakpoints out in the short arms: dic(14;21)(p11.2;p11.2).