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Sant'Ambrogio di Torino, Italy

Bettini L.R.,Pediatric Genetic Unit | Locatelli L.,Pediatric Genetic Unit | Mariani M.,Pediatric Genetic Unit | Cianci P.,Pediatric Genetic Unit | And 7 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum. © 2014 Wiley Periodicals, Inc. Source


Turrina S.,University of Verona | Filippini G.,University of Verona | Voglino G.,Molecular Genetics and Cytogenetics Laboratory | De Leo D.,University of Verona
Forensic Science International: Genetics | Year: 2011

Deletions on the short arm of the Y chromosome involving the amelogenin Y gene (AMELY), located on Yp11.2, can be misleading for sex typing with serious consequences in forensic applications and prenatal diagnosis. In this study, we describe two AMELY null cases concerning two unrelated Italian males from Northeast Italy. PCR amplification of short tandem repeats on the Y chromosome (Y-STRs) showed a lack of AMELY and DYS458 markers. The presence of all the other markers located on the Y chromosome and of the SRY gene in both samples led us to conclude that a deletion had occurred in a portion of the short arm of the Y chromosome. Twenty-three Y-specific sequence tagged sites (STSs) were chosen to delineate the deletion's length, which was estimated to be in the range of 3.35-3.87 Mb for one sample and 1.51-2.58 Mb for the other. These and previous findings suggest that in all cases where potential AMELY drop out has occurred, it should be used additional specific Y chromosome markers or human DNA quantification methods that specifically quantify male DNA using target male genomic markers, which not being located within the deletion regions, allow an accurate sex identification. © 2010 Elsevier Ireland Ltd. Source

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