Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12

Chromosome deletions, including band 5q12, have rarely been reported and have been associated with a wide range of clinical manifestations, such as postnatal growth retardation, intellectual disability, hyperactivity, nonspecific ocular defects, facial dysmorphism, and epilepsy. In this study, we de...

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Detalles Bibliográficos
Autores principales: Cellamare, Angelo, Coccaro, Nicoletta, Nuzzi, Maria Cristina, Casieri, Paola, Tampoia, Marilina, Maggiolini, Flavia Angela Maria, Gentile, Mattia, Ficarella, Romina, Ponzi, Emanuela, Conserva, Maria Rosa, Cardarelli, Laura, Panarese, Annunziata, Antonacci, Francesca, Gesario, Antonia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226940/
https://www.ncbi.nlm.nih.gov/pubmed/34200357
http://dx.doi.org/10.3390/genes12060877

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