Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.
- 1 October 1984
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 21 (5) , 391-395
- https://doi.org/10.1136/jmg.21.5.391
Abstract
The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome translocations detected in this patient were de novo in origin.Keywords
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