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X/Y translocation in a family with Leri-Weill dyschondrosteosis
G Calabrese1, R Fischetto, L Stuppia
1Dip. Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, and Servizio Genetica Medica, Pescara, Italy.
Human Genetics
|October 30, 1999
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.