Patient with terminal duplication 3q and terminal deletion 5q: Comparison with the 3q duplication syndrome and distal 5q deletion syndrome

Brad Angle*, Frank Yen, Joseph H. Hersh, Gordon Gowans

*Corresponding author for this work

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Partial duplication of chromosome 3q is a well-described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann-de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of both chromosome abnormalities has not been previously described. We report on a child with both a de novo duplication of distal 3q (q27 → qter) and terminal deletion of 5q (q35.2 γ qter). The patient had facial anomalies, hypoplastic toenails, lymphedema of the dorsum of the feet, type I Chiari malformation, a seizure disorder, and moderate developmental delays. The phenotype is compared and contrasted to the few reports of patients with similar terminal 3q duplications and 5q deletions. Our patient did not have the characteristic phenotype of the 3q duplication syndrome, suggesting that the chromosome region responsible for this phenotype is more proximal than the terminal 3q27 region. In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities.

Original languageEnglish (US)
Pages (from-to)376-380
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume116 A
Issue number4
StatePublished - Feb 1 2003

Keywords

  • 3q27 γ qter
  • 5q35.2 → qter
  • Deletion 5q
  • Duplication 3q

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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