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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Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 1995-10, Vol.32 (10), p.825-826
Hauptverfasser:	Cooke, L B, Richards, H, Lunt, P W, Burvill-Holmes, L, Howell, R T, McDermott, A
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.32.10.825