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Article

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

European journal of medical genetics - 1 Jan 2000

Gustavsson Peter, Schoumans Jacqueline, Staaf Johan, Borg Ake, Nordenskjöld Magnus, Annerén Göran

Abstract excerpt

We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q12.1-q22.1. An abnormal karyotype was identified involving the long arm of chromosome 11 and fluorescent in situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. A detailed mapping of the chromosome abnormality using whole genome array...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17387046
DOI: 10.1016/j.ejmg.2007.01.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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