R310 Robertsonian Translocation (RT)

Karyotyping is the analysis of a given organism’s full set of chromosomes under a microscope. Unlike most genetic tests, which seek out the presence of specific mutations, karyotyping can detect larger defects, such as aneuploidy (e.g. trisomy, having three copies of a chromosome), aneuploidy of the sex chromosomes (hermaphrodite), reciprocal- and Robertsonian translocations (fusion of two chromosomes), deletions and/ or insertions. These abnormalities may cause a variety of defects.