Article
Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.
American journal of medical genetics - 22 Dec 1999
Sigurdardottir S, Goodman B K, Rutberg J, Thomas G H, Jabs E W, Geraghty M T
Abstract excerpt
The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. Most previous studies of ring chromosomes were based on standard cytogenetic banding techniques and were limited to microscopically detectable deletions in the ring...
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