Literature DB >> 8345951

Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation.

S P Donahue1, S L Wenger, M W Steele, M B Gorin.   

Abstract

The authors report a case of Möbius syndrome with Poland syndrome, cleft palate, dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss. Karyotype demonstrated a t(1;11)(p22;p13) translocation in the patient and his phenotypically normal father and brother. This case extends the spectrum of congenital disorders that are associated with Möbius syndrome and raises the possibility of genetic heterogeneity for the Möbius disorder.

Entities:  

Mesh:

Year:  1993        PMID: 8345951     DOI: 10.3109/13816819309087618

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  6 in total

Review 1.  The genetics of strabismus.

Authors:  M Michaelides; A T Moore
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

Review 2.  [Etiology and genetic aspects of Möbius sequence].

Authors:  H Gaspar
Journal:  Ophthalmologe       Date:  2010-08       Impact factor: 1.059

Review 3.  Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.

Authors:  Sameep Kadakia; Samuel N Helman; Thomas Schwedhelm; Masoud Saman; Babak Azizzadeh
Journal:  Oral Maxillofac Surg       Date:  2015-02-10

4.  Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Authors:  Lusine Nazaryan-Petersen; Inês R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup
Journal:  Hum Mutat       Date:  2019-05-14       Impact factor: 4.878

5.  A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

Authors:  H T Verzijl; B van den Helm; B Veldman; B C Hamel; L P Kuyt; G W Padberg; H Kremer
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

6.  Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.

Authors:  Philip McClure; David Booy; Julia Katarincic; Craig Eberson
Journal:  Int J Pediatr       Date:  2016-02-08
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.