This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Lance, E. I. Articles by Holden, K. R. Search for Related Content PubMed PubMed Citation Articles by Lance, E. I. Articles by Holden, K. R. Social Bookmarking                   What's this?

Expansion of the Deletion 13q Syndrome Phenotype: A Case Report

Department of Neurosciences, Medical University of South Carolina, Charleston, SC

Barbara R. DuPont, PhD

Greenwood Genetic Center, Greenwood, SC

Kenton R. Holden, MD

Department of Neurosciences, Medical University of South Carolina, Charleston, SC, Greenwood Genetic Center, Greenwood, SC, kholden{at}ggc.org

The phenotypic description of deletion 13q syndrome is dependent on the location and size of the deleted segment. At present, the syndrome is divided into 3 groups based on the deletion's location relative to chromosomal band 13q32. Groups 1 (proximal to q32) and 2 (including q32) have shown distinctive phenotypes including mental retardation and growth deficiency, whereas group 3 (q33-34 deletion) is defined by the presence of mental retardation but usually the absence of major malformations. The authors report an 8-year-old Hispanic female with dysmorphic facial features, microcephaly, moderate to severe mental retardation, and uncontrolled epilepsy associated with a terminal 13q33.3 deletion. These features expand the characterization of the phenotype associated with group 3 of the 13q deletion syndrome to include major clinical manifestations. This case report will contribute to more accurate genetic counseling as well as may help identify more individuals with this syndrome.

Key Words: deletion syndrome • epilepsy • mental retardation • phenotype • syndrome • 13q • chromosome

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?