Molecular and phenotypic characterization of ring chromosome 22
β Scribed by Aaron R Jeffries; Sarah Curran; Frances Elmslie; Ajay Sharma; Sharon Wenger; Marybeth Hummel; John Powell
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 210 KB
- Volume
- 137A
- Category
- Article
- ISSN
- 1552-4825
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Ring chromosome 22 has been described in over 50 cases. A characteristic phenotype has not been fully delineated; however, long face, thick eyebrows, 2-3 toe syndactyly, mental retardation, adequate somatic growth and the absence of major malformations are noted in many cases. An 11-yearold boy with
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