Reciprocal Translocation Associated With Multiple Exostoses in Seven Members of a Three Generation Family and Discovered Through an Infertile Male

Tiziano Pramparo, Giuliana Gregato, Manuela De Gregori, Alessandra Friso, Maurizio Clementi, Patrizia Ardenghi, Mariano Rocchi, Orsetta Zuffardi, Romano Tenconi

Research output: Contribution to journalArticle

Abstract

We report a four generations family with multiple exostoses segregating with a reciprocal translocation t(8;19)(q24.11; q13.13) in 8 members of three generations. FISH investigations detected a breakage of the dosage-sensitive EXT1 gene. Although three members of the family died perinatally from unknown causes and one carrier had four spontaneous abortions, the translocation was discovered only when the cytogenetic analysis was requested in an affected male because of oligozoospermia. In fact, it is well known that infertile males may be carriers of reciprocal or Robertsonian translocations with a higher frequency than the general population. This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause.

Original languageEnglish
Pages (from-to)79-83
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume123 A
Issue number1
Publication statusPublished - Nov 15 2003

Keywords

  • EXT1
  • Multiple exostoses
  • Reciprocal translocations

ASJC Scopus subject areas

  • Genetics(clinical)

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