Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 54, Issue 3, Pages 225-230Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.12.012
Keywords
Mental retardation; Autism; Low posterior hairline; Obesity; Lymphedema; Dup(5p) syndrome
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Funding
- German Ministry for Education and Research [01GS08163]
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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. (C) 2010 Elsevier Masson SAS. All rights reserved.
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