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Your search keyword '"Chromosome-1"' showing total 1 results
Start Over Descriptor "Chromosome-1" Publisher elsevier science bv
1 results on '"Chromosome-1"'

1. A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature

Subjects
Coloboma, Developmental delay, Microcephaly, POMGNT1, CHROMOSOME-1, Duplication 1p34.1, Array CGH, Laryngomalacia, 1P, SHORT ARM, DISEASE
Abstract

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.

Published
2009

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