title: X/Y translocation in a family with Leri-Weill dyschondrosteosis.
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.
authors.affiliation: Dip. Scienze Biomediche, Sezione di Genetica Medica, Università di Chieti, and Servizio Genetica Medica, Pescara, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: R
authors.initials: R
authors.lastname: Fischetto
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: F
authors.initials: F
authors.lastname: Capodiferro
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: F
authors.initials: F
authors.lastname: Causio
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: G A
authors.initials: GA
authors.lastname: Rappold
authors.forename: G
authors.initials: G
authors.lastname: Palka
mesh_terms: D000328:Adult; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009687:Nuclear Proteins; D010009:Osteochondrodysplasias / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D009687:Nuclear Proteins; C106071:SHOX protein, human; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors