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UW Cytogenetic Services: Case Conference Karyotype

Cytogenetic finding:
46,XY,der(9)t(6;9)(q23.1;p22)mat [5]/
46,XX,t(6;9)(q23.1;p22) [15]

 


Karyotype explanation: There were actually two different karyotypes observed; the one before the "/" sign is from the fetus and is unbalanced (see below), and after the "/" sign is most likely from the mother (mat) as maternal cells are sometimes adhered to the fetal cells in a placenta. The mother's translocation is balanced, meaning that she has two copies of all regions of her chromosomes, even though two are rearranged. This is the concern in having children if one of the parents is a carrier of a balanced translocation. The numbers in brackets indicated the number of cells observed for each karyotype. A total of 20 cells were analyzed here. This type of karyotype is called "mosaic", meaning there were more than one cell line present in the sample.



Karyotype showing an unbalanced translocation between the long arm of chromosome 6 and the short arm of chromosome 9. This means that the fetus has three copies of part of chromosome 6, and has only one copy of part of chromosome 9.

Karyotype showing an unbalanced translocation between chromosomes 6 and 9. A piece of 9q has replaced the end of 6p.