Cytogenetics of ring chromosome 7
β Scribed by Celia D. DeLozier-Blanchet; Rita Guenin
- Book ID
- 119839537
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 131 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
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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
## Abstract We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the