title: Molecular studies in three patients with isodicentric Y chromosome.
abstract: Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.
authors.affiliation: Istituto di Citomorfologia Normale e Patologica del CNR, Chieti, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: G
authors.initials: G
authors.lastname: Calabrese
authors.forename: P G
authors.initials: PG
authors.lastname: Franchi
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: E
authors.initials: E
authors.lastname: Morizio
authors.forename: G
authors.initials: G
authors.lastname: Sabatino
authors.forename: G
authors.initials: G
authors.lastname: Palka
mesh_terms: D000328:Adult; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D016366:Open Reading Frames; D010641:Phenotype; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics; D014998:Y Chromosome
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors