Genomic deletions in patients with complex phenotypes - Pescucci, Chiara
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Chromosomal abnormalities are a major cause of mental retardation and congenital malformations. It is known that a considerable fraction of patients with multiple congenital anomalies and mental retardation have submicroscopic chromosomal imbalances. The introduction of whole genome array-CGH allows to investigate the DNA for the presence of copy number alterations with high resolution. In patients with multiple congenital anomalies and mental retardation 15-24% of segmental aneusomies were reported. Given these data, we have decided to apply both classical approaches and innovative…mehr

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Produktbeschreibung
Chromosomal abnormalities are a major cause of mental retardation and congenital malformations. It is known that a considerable fraction of patients with multiple congenital anomalies and mental retardation have submicroscopic chromosomal imbalances. The introduction of whole genome array-CGH allows to investigate the DNA for the presence of copy number alterations with high resolution. In patients with multiple congenital anomalies and mental retardation 15-24% of segmental aneusomies were reported. Given these data, we have decided to apply both classical approaches and innovative methodologies to the study of several patients with mental retardation and congenital anomalies.
Autorenporträt
Chiara Pescucci obtained his PhD in Medical Genetics at University of Siena in 2006. She is currently a Molecular Biologist at University Hospital of Careggi, where she works on postnatal and prenatal molecular cytogenetics.