CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature
Open Access
- 28 May 2003
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 11 (6) , 452-456
- https://doi.org/10.1038/sj.ejhg.5200984
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Characterization of supernumerary rings and giant marker chromosomes in well-differentiated lipomatous tumors by a combination of G-banding, CGH, M-FISH, and chromosome- and locus-specific FISH.Cytogenetic and Genome Research, 2002
- High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic HybridizationAmerican Journal of Human Genetics, 2002
- Trisomy 17p10‐p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotypeClinical Genetics, 2001
- Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.Journal of Medical Genetics, 1998
- Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridizationCytogenetic and Genome Research, 1997
- Identification of a supernumerary marker derived from chromosome 17 using FISHAmerican Journal of Medical Genetics, 1995
- Characterization of a de novo 48,XX, + r(X), + r(17) by in situ hybridizatio in a patient with neurofibromatosis (NF1)American Journal of Medical Genetics, 1993
- Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid TumorsScience, 1992
- Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1ANature Genetics, 1992
- De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspectsAmerican Journal of Medical Genetics, 1991