{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T14:07:08Z","timestamp":1778681228422,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2007,9,1]],"date-time":"2007-09-01T00:00:00Z","timestamp":1188604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,9]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1177\/0883073807306257","type":"journal-article","created":{"date-parts":[[2007,9,21]],"date-time":"2007-09-21T13:33:33Z","timestamp":1190381613000},"page":"1124-1127","source":"Crossref","is-referenced-by-count":7,"title":["Expansion of the Deletion 13q Syndrome Phenotype: A Case Report"],"prefix":"10.1177","volume":"22","author":[{"given":"Eboni I.","family":"Lance","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Medical University of South Carolina, Charleston, SC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara R.","family":"DuPont","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, SC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Medical University of South Carolina, Charleston, SC, Greenwood Genetic Center, Greenwood, SC,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,9,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1963.tb00209.x"},{"key":"atypb2","unstructured":"Jones KL Smith's Recognizable Patterns of Human Malformation. 6th ed. 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