Article
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.
Cytogenetic and genome research - 1 Jan 2015
Riccardi Federica, Rivolta Gianna F, Uliana Vera, Grati Francesca R, La Starza Roberta, Marcato Livia, Di Perna Caterina, Quintavalle Gabriele, Garavelli Livia, Rosato Simonetta, Sammarelli Gabriella, Neri Tauro M, Tagliaferri Annarita, Martorana Davide
Abstract excerpt
Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this study, we describe the clinical consequences of the concurrent presence of an interstitial...
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