X/Y translocation in a family with Leri-Weill dyschondrosteosis |
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| Authors: | G. Calabrese R. Fischetto L. Stuppia F. Capodiferro R. Mingarelli F. Causio M. Rocchi G.A. Rappold G. Palka |
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| Affiliation: | Dip. Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, and Servizio Genetica Medica, Pescara, Italy. |
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| Abstract: | 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. |
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