PuSH - Publication Server of Helmholtz Zentrum München: 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

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Oexle, K.* ; Hempel, M.* ; Jauch, A.* ; Meitinger, T. ; Rivera-Brugues, N. ; Stengel-Rutkowski, S.* ; Strom, T.M.

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

Eur. J. Med. Genet. 54, 225-230 (2011)

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In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Mental retardation; Autism; Low posterior hairline; Obesity; Lymphedema; Dup(5p) syndrome

ISSN (print) / ISBN 1769-7212

e-ISSN 1729-7212

Journal European Journal of Medical Genetics

Quellenangaben Volume: 54, Issue: 3, Pages: 225-230

Publisher Elsevier

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)