Literature DB >> 6674412

Ring chromosome 14. A distinct clinical entity.

J P Fryns, E Kubien, A Kleczkowska, B Nawrocka-Kanska, H Van den Berghe.   

Abstract

In this report two non consanguineous children are presented with strikingly similar phenotypes confirming the existence of a characteristic phenotype due to a ring chromosome 14 formation.

Entities:  

Mesh：

Year:  1983        PMID： 6674412

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


  4 in total

Review 1.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

Review 2.  Epilepsy and chromosomal abnormalities.

Authors:  Giovanni Sorge; Anna Sorge
Journal:  Ital J Pediatr       Date:  2010-05-03       Impact factor: 2.638

Review 3.  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Authors:  Berardo Rinaldi; Alessandro Vaisfeld; Sergio Amarri; Chiara Baldo; Giuseppe Gobbi; Pamela Magini; Erto Melli; Giovanni Neri; Francesca Novara; Tommaso Pippucci; Romana Rizzi; Annarosa Soresina; Laura Zampini; Orsetta Zuffardi; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123

4.  Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.

Authors:  Javier Sánchez; Lutgardo García-Díaz; David Chinchón; Guillermo Antiñolo
Journal:  Case Rep Genet       Date:  2012-11-05
  4 in total

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