Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients

We report on the cytogenetic and molecular investigations of constitutional de-novo ring chromosome 13s in three unrelated patients for better understanding and delineation of the phenotypic variability characterizing this genomic rearrangement. The patient’s karyotypes were as follows: 46,XY,r(13)(...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: Abdallah-Bouhjar, Inesse B., Mougou-Zerelli, Soumaya, Hannachi, Hanene, Gmidène, Abir, Labalme, Audrey, Soyah, Najla, Sanlaville, Damien, Saad, Ali, Elghezal, Hatem
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2013
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020974/
https://ncbi.nlm.nih.gov/pubmed/27625853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13063
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados