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)(...

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Библиографические подробности
Опубликовано в: :J Pediatr Genet
Главные авторы: Abdallah-Bouhjar, Inesse B., Mougou-Zerelli, Soumaya, Hannachi, Hanene, Gmidène, Abir, Labalme, Audrey, Soyah, Najla, Sanlaville, Damien, Saad, Ali, Elghezal, Hatem
Формат: Artigo
Язык:Inglês
Опубликовано: Georg Thieme Verlag KG 2013
Online-ссылка: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
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