Literature DB >> 1715129

Difference in early development of presumed monozygotic twins with Rett syndrome.

I Bruck1, M Philippart, D Giraldi, S Antoniuk.   

Abstract

Normal early development has generally been insisted on as an essential criterion for the diagnosis of Rett syndrome. A new set of monozygotic female twins is reported. Twin 1 was considered to be abnormal from birth while delay was not suspected in twin 2 until she was about one year old. Some regression occurred during the second year in both twins, who are now clinically indistinguishable from each other at age 4 years. Other than a slight difference in head circumference at birth, no environmental factor which could account for the clinical difference has been identified.

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Year:  1991        PMID: 1715129     DOI: 10.1002/ajmg.1320390411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  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

Review 2.  Rett syndrome.

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

3.  Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis.

Authors:  Michelle M Mitchell; Ana Lleo; Luca Zammataro; Marlyn J Mayo; Pietro Invernizzi; Nancy Bach; Shinji Shimoda; Stuart Gordon; Mauro Podda; M Eric Gershwin; Carlo Selmi; Janine M LaSalle
Journal:  Epigenetics       Date:  2011-01-01       Impact factor: 4.528

4.  Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

Authors:  Kunio Miyake; Chunshu Yang; Yohei Minakuchi; Kenta Ohori; Masaki Soutome; Takae Hirasawa; Yasuhiro Kazuki; Noboru Adachi; Seiko Suzuki; Masayuki Itoh; Yu-Ichi Goto; Tomoko Andoh; Hiroshi Kurosawa; Mitsuo Oshimura; Masayuki Sasaki; Atsushi Toyoda; Takeo Kubota
Journal:  PLoS One       Date:  2013-06-21       Impact factor: 3.240

5.  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

6.  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
  6 in total

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