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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 methodologies to the study of several patients with mental retardation and congenital anomalies.
| Autorius: | Chiara Pescucci |
| Leidėjas: | LAP LAMBERT Academic Publishing |
| Išleidimo metai: | 2012 |
| Knygos puslapių skaičius: | 56 |
| ISBN-10: | 3659244082 |
| ISBN-13: | 9783659244087 |
| Formatas: | 220 x 150 x 4 mm. Knyga minkštu viršeliu |
| Kalba: | Anglų |
Parašykite atsiliepimą apie „Genomic deletions in patients with complex phenotypes: From cytogenetics to arrayCGH“
