Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum

Amy Lawson-Yuen, Sue Ann Berend, Janet S. Soul, Mira Irons*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.

Original languageEnglish (US)
Pages (from-to)217-220
Number of pages4
JournalClinical Dysmorphology
Volume15
Issue number4
DOIs
StatePublished - Oct 2006
Externally publishedYes

Keywords

  • Chromosome analysis
  • Corpus callosum
  • Del(3)(q13.1q13.3)
  • Interstitial deletion

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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