Ring Autosomes: Some Unexpected Findings

Ring Autosomes: Some Unexpected Findings

Ring chromosomes are rare entities, usually associated with phenotypic abnormalities in correlation with the loss of genetic material. There are various breakpoints and sometimes there is a dynamic mosaicism that is reflected in clinical features. Most of the ring chromosomes are de novo occurrences...

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Bibliographic Details
Main Authors: Caba L., Rusu C., Plăiaşu V., Gug G., Grămescu M., Bujoran C., Ochiană D., Voloşciuc M., Popescu R., Braha E., Pânzaru M., Butnariu L., Sireteanu A., Covic M., Gorduza E.V.
Format: Article
Language:English
Published: Sciendo 2012-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
chromosomal instability
variable phenotype
mosaicism
rare disease
ring chromosome
Online Access:https://doi.org/10.2478/bjmg-2013-0005

Internet

https://doi.org/10.2478/bjmg-2013-0005

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