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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

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...

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Main Authors: Oexle, Konrad (Author) , Hempel, Maja (Author) , Jauch, Anna (Author) , Meitinger, Thomas (Author) , Rivera-Brugués, Núria (Author) , Stengel-Rutkowski, Sabine (Author) , Strom, Tim (Author)
Format: Article (Journal)
Language:English
Published: 4 January 2011
In: European journal of medical genetics
Year: 2011, Volume: 54, Issue: 3, Pages: 225-230
ISSN:1878-0849
DOI:10.1016/j.ejmg.2010.12.012
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.ejmg.2010.12.012
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S176972121000159X
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Author Notes:Konrad Oexle, Maja Hempel, Anna Jauch, Thomas Meitinger, Núria Rivera-Brugués, Sabine Stengel-Rutkowski, Tim Strom
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Summary: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.
Item Description:Gesehen am 29.09.2022
Physical Description:Online Resource
ISSN:1878-0849
DOI:10.1016/j.ejmg.2010.12.012

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