Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

BACKGROUND: Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microce...

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Detalhes bibliográficos
Main Authors: Cervantes, Alicia, García-Delgado, Constanza, Fernández-Ramírez, Fernando, Galaz-Montoya, Carolina, Morales-Jiménez, Ariadna Berenice, Nieto-Martínez, Karem, Gómez-Laguna, Laura, Villa-Morales, Judith, Quintana-Palma, Mónica, Berúmen, Jaime, Kofman, Susana, Morán-Barroso, Verónica F
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4170088/
https://ncbi.nlm.nih.gov/pubmed/25223409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8794-7-55
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