Familial partial trisomy 8p without dysmorphic features and only mild mental retardation
- 1 October 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (10) , 792-795
- https://doi.org/10.1136/jmg.32.10.792
Abstract
We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. Comparison of the phenotypes of our patients and of published patients with an inversion duplication of the short arm of chromosome 8 indicates that trisomy for chromosome band 8p21 causes the more severe clinical picture in the latter.Keywords
This publication has 26 references indexed in Scilit:
- Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardationClinical Genetics, 2008
- Direct transmission of a tandem duplication in the short arm of chromosome 8Clinical Genetics, 1994
- D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)Human Genetics, 1993
- Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridizationAmerican Journal of Medical Genetics, 1992
- Characterization of a human chromosome 8 cosmid library constructed from flow-sorted chromosomesCytogenetic and Genome Research, 1992
- Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormalityClinical Genetics, 1991
- Partial monosomy 8p with minimal dysmorphic signs.Journal of Medical Genetics, 1990
- Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.Journal of Medical Genetics, 1990
- Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA librariesHuman Genetics, 1988
- Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)Clinical Genetics, 1985