Article
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
Genes - 7 Jun 2021
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
Abstract excerpt
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 describe for the first time a child with growth retardation in which we identified a balanced t(3;10) translocation by...
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