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.

Document type:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):: Oexle, K; Hempel, M; Jauch, A; Meitinger, T; Rivera-Brugués, N; Stengel-Rutkowski, S; Strom, T
Title:: 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.
Abstract:: 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.
Journal title abbreviation:: Eur J Med Genet
Year:: 2011
Journal volume:: 54
Journal issue:: 3
Pages contribution:: 225-30
Language:: eng
Fulltext / DOI:: doi:10.1016/j.ejmg.2010.12.012
Pubmed ID:: http://view.ncbi.nlm.nih.gov/pubmed/21211577
Print-ISSN:: 1769-7212
TUM Institution:: Institut für Humangenetik
BibTeX

Occurrences: