Genomic deletions in patients with complex phenotypes
From cytogenetics to arrayCGH
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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 methodolog...
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.
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