Chromosome 2p Duplication Syndrome

Alternative Names

  • Trisomy 2p
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Mode of Inheritance

Autosomal dominant

Gene Map Locus

2p

Description

Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[8869] Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. [From NORD]

Epidemiology in the Arab World

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Other Reports

Lebanon

Mégarbané et al (1997) described a patinet withj a de novo duplication of the 2p21.00-p24.2 region. The patient presented with dysmorphic features and global development delay. 

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