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Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

ABSTRACT: 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 its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.

SUBMITTER: O'Connor R

PROVIDER: S-EPMC3447219 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

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]

PMID: 23074681

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