Expansion of the deletion 13q syndrome phenotype: A case report

Eboni I. Lance, Barbara R. DuPont, Kenton R. Holden

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)1124-1127
Number of pages4
JournalJournal of child neurology
Issue number9
StatePublished - Sep 2007
Externally publishedYes


  • 13q
  • Chromosome
  • Deletion syndrome
  • Epilepsy
  • Mental retardation
  • Phenotype
  • Syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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