Duplication 2 (q11.2-q21): a previously unreported abnormality.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 8558566.
- Also identified by PMC identifier 1051712.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 2