Ontology highlight
ABSTRACT:
SUBMITTER: O'Connor R
PROVIDER: S-EPMC3447219 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
O'Connor Rachel R Al-Murrani Amel A Aftimos Salim S Asquith Philip P Mazzaschi Roberto R Eyrolle-Guignot Dominique D George Alice M AM Love Donald R DR
Case reports in genetics 20111113
This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to it ...[more]