title: Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.
abstract: Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisomy for the 21q223 band.
authors.affiliation: Centre de Génétique Médicale et INSERM U.242, Hôpital d'Enfants de la Timone, Marseille, France.
authors.forename: M C
authors.initials: MC
authors.lastname: Pellissier
authors.forename: M
authors.initials: M
authors.lastname: Laffage
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: E
authors.initials: E
authors.lastname: Passage
authors.forename: M G
authors.initials: MG
authors.lastname: Mattei
authors.forename: J F
authors.initials: JF
authors.lastname: Mattei
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000235:genetics*; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype
chemical_list: D004247:DNA