Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs.

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis / Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - ELETTRONICO. - 40:1(2014), pp. 39-42. [10.1186/1824-7288-40-39]

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Caramaschi, Elisa;STANGHELLINI, ILARIA;GIUVA, Tiziana;PAOLUCCI, Paolo;PERCESEPE, Antonio
2014

Abstract

Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this reason a definition of the categories of patients that can benefit the most of the analysis is needed. Aim of the study was to retrospectively analyze the clinical features of children with DD/ID attending the outpatient clinic of the Mother & Child Department of the University Hospital of Modena subjected to a-CGH, to verify by uni- and multivariate analysis the independent predictors of pathogenic CNVs.
2014
40
1
39
42
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis / Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - ELETTRONICO. - 40:1(2014), pp. 39-42. [10.1186/1824-7288-40-39]
Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzur...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1061498
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