Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization

J. L. Zenger-Hain, D. L. Van Dyke, A. Wiktor, H. Walker, G. L. Feldman

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


Duplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retardation. We report a 2-year-old white girl with a de novo 46,XX,inv dup(5)(p14p15.3) chromosome constitution, who presented with motor and language delays, bilateral strabismus, small posteriorly angulated ears, a high-arched palate, mild hypotonia, and an atrial septal defect. A CT scan of the head was normal. In situ hybridization with a cosmid probe specific for sub-band 5p15.3 (Oncor, Inc., Gaithersburg, MD) was used to identify the origin and orientation of the extra material. The milder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. This study demonstrates the usefulness of in situ probes in identifying the origin and orientation of duplicated genetic material.

Original languageEnglish (US)
Pages (from-to)1198-1201
Number of pages4
JournalAmerican journal of medical genetics
Issue number8
StatePublished - Nov 30 1993


  • chromosome 5 aberration
  • chromosome 5p
  • inv dup 5p

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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