Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5

T. Kobayashi, K. Narahara, Y. Yokoyama, S. Ueyama, O. Mohri, T. Fujii, M. Fujimoto, S. I. Ohtsuki, K. Tsuji, Y. Seino

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

Abstract

We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1 → q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies.

Original languageEnglish
Pages (from-to)460-463
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume41
Issue number4
DOIs
Publication statusPublished - Jan 1 1991

Keywords

  • Gardner syndrome
  • adenomatous polyposis coli
  • chromosome 5
  • contiguous gene syndrome
  • interstitial deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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