Literature DB >> 17715281

Mosaic trisomy r(14) associated with epilepsy and mental retardation.

Meropi Tzoufi1, Chrisanthi Kanioglou, Aggeliki Dasoula, Ioannis Asproudis, Agathoklis Tsatsoulis, Carolina Sismani, Philippos C Patsalis, Ioannis Georgiou, Maria Syrrou.   

Abstract

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

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Year:  2007        PMID: 17715281     DOI: 10.1177/0883073807304196

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  2 in total

1.  Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Authors:  Consuelo Salas-Labadía; Esther Lieberman; Roberto Cruz-Alcívar; Pilar Navarrete-Meneses; Samuel Gómez; Consuelo Cantú-Reyna; Karin Buiting; Carola Durán-McKinster; Patricia Pérez-Vera
Journal:  Mol Cytogenet       Date:  2014-09-25       Impact factor: 2.009

2.  Complete trisomy 14 mosaicism: first live-born case in Korea.

Authors:  Yun Jung Hur; Taegyu Hwang
Journal:  Korean J Pediatr       Date:  2012-10-29
  2 in total

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