Duplication 2 (q11.2-q21): a previously unreported abnormality
Open Access
- 1 October 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (10) , 825-826
- https://doi.org/10.1136/jmg.32.10.825
Abstract
A 7 year old boy is described with moderate learning disability, facial dysmorphism, and a de novo duplication of chromosome 2 (q11.2-q21). There are few published reports of proximal 2q duplication, and none reporting direct de novo duplication for this exact region.Keywords
This publication has 2 references indexed in Scilit:
- Delineation of a characteristic phenotype in distal trisomy 2q.1984
- Distal 2q duplication: Report of two familial cases and an attempt to define a syndromeAmerican Journal of Medical Genetics, 1979