Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype
β Scribed by Kosuke Izumi; Yukio Yamashita; Michihiko Aramaki; Rika Kosaki; Noboru Hosokai; Takao Takahashi; Kenjiro Kosaki
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 181 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from
We report on the clinical, cytogenetic, and molecular characterization of a propositus and his mother with a duplication of 3q25-q26, minor anomalies, and mental retardation. The duplication, detected by cytogenetic analysis, was confirmed and delineated by comparative genomic hybridization and fluo
We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)-(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date.