Orsetta Zuffardi
University of Pavia
400 Papers
4.7K Citations
Orsetta Zuffardi is an academic researcher from University of Pavia. The author has contributed to research in topics: Biology & Chromosomal translocation. The author has an hindex of 69, co-authored 385 publications. Previous affiliations of Orsetta Zuffardi include University of Turin & University of Padua.
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Papers
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
Simone Gana,Pierangelo Veggiotti,Giusy Sciacca,Cristina Fedeli,Anna Bersano,G. Micieli,Mohamad Maghnie,Roberto Ciccone,Elena Rossi,Katie Plunkett,Weimin Bi,Vernon R. Sutton,Orsetta Zuffardi +12 more
TL;DR: Using array-CGH for genome-wide screening, an interstitial deletion of chromosome band 19q13.11 was detected in two patients exhibiting the recognizable pattern of malformations as described in other instances of this submicroscopic genomic imbalance, and WTIP gene haploinsufficiency was hypothesized as responsible for hypospadias.
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children:
Stefano D'Arrigo,Francesco Gavazzi,Enrico Alfei,Orsetta Zuffardi,Cristina Montomoli,Barbara Corso,Erika Buzzi,Francesca L. Sciacca,Sara Bulgheroni,Daria Riva,Chiara Pantaleoni +10 more
TL;DR: The study showed that causative copy number variants are frequently found even in cases of mild intellectual disability, and the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, is emphasized.
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Ring chromosome 12 and latent centromeres
TL;DR: A ring 12 chromosome was found in a male child with minor phenotypic alterations and since there is no other case of a ring 12 in the literature, it was found to be normal.
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Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Maria Piccione,Ettore Piro,Francesca Serraino,Simona Cavani,Roberto Ciccone,Michela Malacarne,Mauro Pierluigi,Marianna Vitaloni,Orsetta Zuffardi,Giovanni Corsello +9 more
TL;DR: The data confirm the hypothesis suggesting that 2p15p16.1 deletion is a contiguous gene syndrome and the common dysmorphic features and neurodevelopmental delay found in these patients are in agreement with the clinical phenotype of a microdeletion syndrome involving 2p 15p 16.1.
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A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications
Maria Clara Bonaglia,Roberto Giorda,Angelo Massagli,Rita Galluzzi,Roberto Ciccone,Orsetta Zuffardi +5 more
TL;DR: The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed, and the fact that concomitant deletions associated with inverted duplications are very likely to be more frequent than classical cytogenetic methods alone have been able to demonstrate is highlighted.