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