Direct transmission of a tandem duplication in the short arm of chromosome 8
- 1 January 1994
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 45 (1) , 36-39
- https://doi.org/10.1111/j.1399-0004.1994.tb03987.x
Abstract
A family is described in which a mother and her two children carry a tandem duplication of the short arm of chromosome 8. Their phenotypes are similar and characterised by distinct facial dysmorphism, small stature and mild mental retardation. This is one of the first cases of direct familial transmission of a partial duplication of an autosomal chromosome segment.Keywords
This publication has 16 references indexed in Scilit:
- Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridizationAmerican Journal of Medical Genetics, 1992
- Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5American Journal of Medical Genetics, 1992
- Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardationHuman Genetics, 1992
- Construction and characterization of plasmid libraries enriched in sequences from single human chromosomesGenomics, 1991
- Inv dup (8) (p21.1 → 22.1): further case report and a new hypothesis on the origin of the chromosome abnormalityClinical Genetics, 1991
- Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.Journal of Medical Genetics, 1990
- Inverted tandem duplication generates a duplication deficiency of chromosome 8pClinical Genetics, 1987
- Segregation of an X ring chromosome in two generations.Journal of Medical Genetics, 1980
- Duplication 8p syndrome: Studies in a family with a reciprocal translocation between chromosomes 8 and 12American Journal of Medical Genetics, 1980
- Four new cases of ring 21 and 22 including familial transmission of ring 21.Journal of Medical Genetics, 1977