21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 33 (1) , 47-53
- https://doi.org/10.1007/bf00447285
Abstract
An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.Keywords
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