46,XX,T(15-21)/47,XX,15P-,+21 MOSAICISM IN A CHILD WITH DOWNS-SYNDROME
- 1 January 1986
- journal article
- research article
- Vol. 29 (2) , 104-106
Abstract
We report here the first case of a mosaic Down''s syndrome in which both clones are trisomic for chromosome 21, one of them (90%) by a Robertsonian translocation (15;21) appearing de novo, and the other (10%) by an additional chromosome 21. Three hypotheses can explain the appearance of such a mosaic: (a) that of a chimera formed by the fusion of two trisomy 21 zygotes, one of which had a Robertsonian translocation, the other an additional trisomy 21 zygote; (b) that of a fusion between a chromosome 15 and a chromosome 21 in one of the early segmentation blastomeres of a trisomy 21 zygote; (c) the more probable hypothesis of the occurrence of a fission at the break-attachment point of a Robertsonian translocation (15;21) in one of the cells arising from the early postzygotic divisions of a zygote which was a trisomy 21 by Robertsonian translocation (15;21).This publication has 4 references indexed in Scilit:
- Two cases of Down syndrome with unusual de novo translocation*Clinical Genetics, 2008
- Cytogentic studies of a patient with mosaicism of isochromosome 13q and a dicentric (Y; 13) translocation showing differential centromeric activityClinical Genetics, 1983
- T(21Q21Q)-R[T(21Q21Q)] MOSAIC IN 2 UNRELATED PATIENTS WITH MILD STIGMATA OF DOWNS-SYNDROME1982
- A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q)Clinical Genetics, 1980