Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases
β Scribed by Sandra Chantot-Bastaraud; Christine Muti; Eva Pipiras; Marie Claude Routon; Anne Roubergue; Lydie Burglen; Jean Pierre Siffroi; Brigitte Simon-Bouy
- Book ID
- 113455302
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 268 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0003-3995
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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 base
A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom