Literature DB >> 1865474

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.

R Pallotta1.   

Abstract

A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

Entities:  

Mesh：

Year:  1991        PMID： 1865474      PMCID： PMC1016856          DOI： 10.1136/jmg.28.5.342

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Study on segregation and risk for abnormal offspring in carriers of pericentric inversion of the (p11 leads to q13) segment of chromosome 2.

Authors:  C Baccichetti; E Lenzini; A Peserico; R Tenconi
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438

2.  Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

Authors:  M Baraitser; R M Winter
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

3.  Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Authors:  S Ayme; M G Mattei; J F Mattei; F Giraud
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Pericentric inversions in man: personal experience and review of the literature.

Authors:  A Kleczkowska; J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132
  4 in total
  3 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

2.  The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

Authors:  Tanya C Allawh; Barry Scott Brown
Journal:  J Pediatr Genet       Date:  2016-11-10

3.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.