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Dissociation as probable origin of mosaic 45,XY,t(15;21)/46,XY,i(21q).

1978; BMJ; Volume: 15; Issue: 4 Linguagem: Inglês

10.1136/jmg.15.4.305

1468-6244

Angela Maria Vianna‐Morgante, Henrique Gil da Silva Nunesmaia,

Classical Antiquity Studies

A patient is described with some features of Down9s syndrome and a 45,XY, t(15;21)(15qter leads to 15p13::21p11 leads to 21qter)/46,XY,i(21)(qter leads to cen leads to qter) karyotype. Two mechanisms are proposed for the origin of the mosaicism, one assuming the dissociation of a translocation (15;21) chromosome already present in the zygote, and the other involving a chromatid translocation in a 46,XY zygote. The possible independent origin of the two cell lines is also considered.