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Genomic deletions in patients with complex phenotypes


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  • Product Description

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.

Product Specifications
SKU :COC41898
AuthorChiara Pescucci
Number of Pages56
Publishing Year10/15/2012
Edition1 st
Book TypeGenetics (non-medical)
Country of ManufactureIndia
Product BrandFastBook Publishing
Product Packaging InfoBox
In The Box1 Piece
Product First Available On ClickOnCare.com2015-03-08 00:00:00
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