Duplication 2 (q11.2-q21): a previously unreported abnormality

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.

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Bibliographic Details
Published inJournal of medical genetics Vol. 32; no. 10; pp. 825 - 826
Main Authors Cooke, L B, Richards, H, Lunt, P W, Burvill-Holmes, L, Howell, R T, McDermott, A
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.10.1995
BMJ
BMJ Publishing Group LTD
Subjects
Adolescent
Adult
Biological and medical sciences
Brief Papers
Child
Chromosome aberrations
Chromosome Aberrations - genetics
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 2
Face - abnormalities
Female
Growth Disorders
Humans
Hyperkinesis
Hyperphagia
Learning Disorders - genetics
Male
Medical genetics
Medical sciences
Chromosomal aberration
Human
Case study
Proximal
Symptomatology
Abnormal chromosome
Abnormal A2 chromosome
Chromosome duplication
Child
De novo
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Summary: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.
Bibliography:href:jmedgenet-32-825.pdf
PMID:8558566
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.32.10.825