A rare case of mosaic Down syndrome 46,XY/46,XY, ‐21, +i(21q)
- 23 April 1980
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 17 (4) , 271-274
- https://doi.org/10.1111/j.1399-0004.1980.tb00146.x
Abstract
Detailed studies were carried out on a patient with a rare type of mosaicism which gave rise to an effective 21 trisomy. The clnical signs of Down syndrome were minimal. The cytogenetic interpretation is that the abnormal clone had an isochromosome derived from a maternal chromosome 21. The normal cell line appears to be replacing the abnormal clone.Keywords
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