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Beschreibung
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.
From cytogenetics to arrayCGH
Details
| Verlag | LAP LAMBERT Academic Publishing |
| Ersterscheinung | 15. Oktober 2012 |
| Maße | 22 cm x 15 cm x 0.4 cm |
| Gewicht | 102 Gramm |
| Format | Softcover |
| ISBN-13 | 9783659244087 |
| Seiten | 56 |
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