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Case Reports
. 1976 Jul 7;33(1):47-53.
doi: 10.1007/BF00447285.

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

A Serra, D P Singh-Kahlon
Case Reports

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

A Serra et al. Hum Genet. .

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.

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References

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