Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient
β Scribed by Veronica Bertini; Angelo Valetto; Angela Uccelli; Alice Bonuccelli; Enrico Tarantino; Grazia Taddeucci; Paolo Simi
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 186 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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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 an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, a
## 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