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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)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Mental retardation; Autism; Low posterior hairline; Obesity; Lymphedema; Dup(5p) syndrome
ISSN (print) / ISBN 1769-7212
e-ISSN 1729-7212
Zeitschrift European Journal of Medical Genetics
Quellenangaben Band: 54, Heft: 3, Seiten: 225-230 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)