Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.
- 1 August 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (8), 523-526
- https://doi.org/10.1136/jmg.27.8.523
Abstract
Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome.Keywords
This publication has 19 references indexed in Scilit:
- Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6Clinical Genetics, 2008
- Partial trisomy 6q: case report with necropsy findings.Journal of Medical Genetics, 1987
- A fetal case of partial trisomy 6q(q21-qter) with renal dysplasiaJournal of Human Genetics, 1986
- Partial trisomy 6q and bilateral retinal detachmentOphthalmic Paediatrics and Genetics, 1986
- Duplication 6q24 → 6qter in an infant from a balanced paternal translocationAmerican Journal of Medical Genetics, 1983
- Trisomy 6q25→6qter in two sisters resulting from maternal 6;11 translocationAmerican Journal of Medical Genetics, 1980
- Duplication 6q syndromeAmerican Journal of Medical Genetics, 1979
- Partial trisomy 6Clinical Genetics, 1978
- Nucleolus organizer activity and the origin of Robertsonian translocationsCytogenetic and Genome Research, 1978
- Familial partial trisomy 6q syndromes resulting from inherited ins (5;6) (q33;q15q27)Clinical Genetics, 1976