Literature DB >> 9112001

Möbius-like syndrome associated with a 1;2 chromosome translocation.

M Nishikawa1, T Ichiyama, T Hayashi, S Furukawa.   

Abstract

We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.

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Year:  1997        PMID: 9112001     DOI: 10.1111/j.1399-0004.1997.tb02433.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  10 in total

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9.  An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Authors:  Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03

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  10 in total

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