期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 2-3, 页码 116-119出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2009.01.005
关键词
Duplication 1p34.1; Array CGH; Developmental delay; Microcephaly; Coloboma; Laryngomalacia; POMGNT1
We report on a male patient with intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay. Array CGH analysis revealed a 649 kb duplication on chromosome 1p34.1. Only five patients with overlapping duplications have been reported thus far. Ten known genes are located in the duplicated region, including the POMGNT1 gene encoding for O-mannose beta-1,2-N-acetylglucosaminyltransferase. This gene, mutated in muscle-eye-brain disease, might be causative for the observed phenotype in our patient. (C) 2009 Elsevier Masson SAS. All rights reserved.
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