Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

To assess the clinical utility of genome-wide oligonucleotide arrays in diagnosis of mental retardation and to address issues relating to interpretation of copy number changes (CNCs), we collected results on a total of 1499 proband patients from five academic diagnostic laboratories where the same 44K array platform has been used. Three of the five laboratories achieved a diagnostic yield of 14% and the other two had a yield of 11 and 7%, respectively. Approximately 80% of the abnormal cases had a single segment deletion or duplication, whereas the remaining 20% had a compound genomic imbalance involving two or more DNA segments.

Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita.

Provision of health care to patients during and after events like those which occurred in association with hurricanes Katrina and Rita poses particular difficulties for rare disease patients, including those with genetic/metabolic diseases. In this summary, we recount the obstacles encountered in attempting to maintain and restore essential medical care to these patients, and offer proposals which may mitigate future such events.