Work

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or “deletion with positional effect” syndrome?

Year: 2005

Type: article

Abstract: 34 Additional clinical features include learning disabil- ity, seizure, cardiomyopathy, and hearing impairment. Detailed molecular characterisation of patients with 1p36 constitutional deletions showed variability in the parental origin, deletion size, and complexity of the chromosomal rearrangements, as well as in the clinical presentation of the syndrome. 3 These observations led Wu et al to propose that ''haploinsufficiency of contiguous, but functionally un- related, genes in the deletion region are responsible for the phenotypic features''. Therefore, they postulated that ''refin- ing the sizes of the deletions in affected individuals, in conjunction with phenotype/genotype correlation, will aid in identifying candidate genes within critical deletion intervals''. 5

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.2004.023861