Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.
- 1 April 1998
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (4) , 319-322
- https://doi.org/10.1136/jmg.35.4.319
Abstract
In this communication, we describe two cases of proximal 2q trisomy (2q11.2--> q21.1) resulting from an interchromosomal insertion. The chromosomal origin of the insertion was confirmed by fluorescence in situ hybridisation. An unbalanced karyotype, 46,XX,der(8) ,ins(8;2) (p21.3; q21.1q11.2), was found in the proband and her mother, who both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness. This family is a rare example of direct transmission of a partial autosomal trisomy.Keywords
This publication has 27 references indexed in Scilit:
- Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).Journal of Medical Genetics, 1996
- Unbalanced karyotype, dup 14(q13‐q22), in a mother and her two childrenClinical Genetics, 1996
- A linkage study of schizophrenia with DNA markers from chromosome 8p21-p22 in 25 multiplex familiesSchizophrenia Research, 1996
- Direct transmission of a tandem duplication in the short arm of chromosome 8Clinical Genetics, 1994
- 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
- An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.Journal of Medical Genetics, 1992
- Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotypeAmerican Journal of Medical Genetics, 1991
- Chromosome imbalance, normal phenotype, and imprinting.Journal of Medical Genetics, 1990
- Reproduction in Down's syndromeInternational Journal of Gynecology & Obstetrics, 1990
- De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).Journal of Medical Genetics, 1984