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21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes

✍ Scribed by A. Serra; D. Pal Singh-Kahlon

Publisher: Springer
Year: 1976
Tongue: English
Weight: 454 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00447285

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✦ Synopsis

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.

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