Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities
β Scribed by Audrey Basinko; Maria Luisa Giovannucci Uzielli; Gloria Scarselli; Manuela Priolo; Giuseppina Timpani; Marc De Braekeleer
- Book ID
- 116433437
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 328 KB
- Volume
- 55
- Category
- Article
- ISSN
- 1769-7212
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We report on a 3βyearβold male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centro
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