Literature DB >> 3434722

A set of monozygotic twins with Rett syndrome.

M Coleman1, S Naidu, M Murphy, M Pines, W Bias.   

Abstract

The case history of a set of twins with Rett syndrome is presented. The twins test as monozygotic by both blood groups and HLA titers. In a previous generation, the family had three females who died of an unknown degenerative disease on the paternal side of this family. The discussion includes a hypothesis about female genetic disease occurring in a recessive pattern on the X chromosome.

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Mesh：

Year:  1987        PMID： 3434722     DOI： 10.1016/s0387-7604(87)80067-0

Source DB:  PubMed          Journal:  Brain Dev        ISSN： 0387-7604            Impact factor:   1.961


  7 in total

1.  Rett syndrome--familial recurrence.

Authors:  C R Banapurmath; S Anees
Journal:  Indian J Pediatr       Date:  1995 Jul-Aug       Impact factor: 1.967

2.  A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

Authors:  N C Schanen; E J Dahle; F Capozzoli; V A Holm; H Y Zoghbi; U Francke
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  In search of a genetic basis for the Rett syndrome.

Authors:  P S Martinho; P G Otto; F Kok; A Diament; M J Marques-Dias; C H Gonzalez
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 4.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

5.  Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome.

Authors:  B R Migeon; M A Dunn; G Thomas; B J Schmeckpeper; S Naidu
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

6.  De novo deletion in MECP2 in a monozygotic twin pair: a case report.

Authors:  Kirti Mittal; Madhulika Kabra; Ramesh Juyal; Thelma BK
Journal:  BMC Med Genet       Date:  2011-08-27       Impact factor: 2.103

7.  Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.

Authors:  Christa Einspieler; Peter B Marschik; Wanderley Domingues; Victor B Talisa; Katrin D Bartl-Pokorny; Thomas Wolin; Jeff Sigafoos
Journal:  J Dev Phys Disabil       Date:  2014-04
  7 in total

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