Literature DB >> 880069

Three-generation pedigree of a Möbius syndrome variant with chromosome translocation.

F A Ziter, W C Wiser, A Robinson.   

Abstract

We report the clinical and cytogenetic data on seven members of a family, spaning three generations, who showed congenital facial diplegia and finger contractures. Each affected member showed an identical chromosome abnormality, reciprocal translocation between chromosome 1 and 13. The concurrence of the clinical and cytogenetic defect in this family suggests a direct and possibly etiologic relationship.

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Mesh：

Year:  1977        PMID： 880069     DOI： 10.1001/archneur.1977.00500190071011

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


  20 in total

1.  Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Authors:  J Wirth; H G Nothwang; S van der Maarel; C Menzel; G Borck; I Lopez-Pajares; K Brøndum-Nielsen; N Tommerup; M Bugge; H H Ropers; T Haaf
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

Review 2.  The genetics of strabismus.

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

Review 3.  [Etiology and genetic aspects of Möbius sequence].

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

4.  Deletion of chromosome 13 in Moebius syndrome.

Authors:  J J Slee; R D Smart; D L Viljoen
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 5.  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

6.  Moebius syndrome.

Authors:  D Kumar
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

7.  A family with Huntington disease and reciprocal translocation 4;5.

Authors:  U G Froster-Iskenius; M R Hayden; H S Wang; D K Kalousek; D Horsman; R A Pfeiffer; A Schottky; E Schwinger
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

8.  Moebius' syndrome with unilateral cerebellar hypoplasia.

Authors:  M G Harbord; J P Finn; M A Hall-Craggs; E M Brett; M Baraitser
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

9.  Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors:  Elias I Traboulsi
Journal:  Trans Am Ophthalmol Soc       Date:  2004

Review 10.  A developmental and genetic classification for midbrain-hindbrain malformations.

Authors:  A James Barkovich; Kathleen J Millen; William B Dobyns
Journal:  Brain       Date:  2009-12       Impact factor: 13.501
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