X/Y translocation in a family with Leri-Weill dyschondrosteosis

Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka

Research output: Contribution to journalArticlepeer-review


An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.

Original languageEnglish
Pages (from-to)367-368
Number of pages2
JournalHuman Genetics
Issue number4
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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