Genomic deletions in patients with complex phenotypes
From cytogenetics to arrayCGH
Paperback
Lieferzeit: Print on Demand - Lieferbar innerhalb von 3-5 Werktagen I
ISBN-13:
9783659244087
Veröffentl:
2012
Einband:
Paperback
Erscheinungsdatum:
15.10.2012
Seiten:
56
Autor:
Chiara Pescucci
Gewicht:
102 g
Format:
220x150x4 mm
Sprache:
Englisch
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.