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Article

Autosomal ring chromosomes in human genetic disorders.

1 Apr 2015

Abstract excerpt

Ring chromosomes arise following breakage and rejoining in both chromosome arms. They are heterogeneous with variable size and genetic content and can originate from any chromosome. Phenotypes associated with ring chromosomes are highly variable as apart from any deletion caused by ring formation, imbalances from ring instability can also occur. Of interest is ring chromosome 20 which has a significant...

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PMID: 26835370
DOI: 10.3978/j.issn.2224-4336.2015.03.04

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