Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.
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.
Pellissier
M C
MC
Centre de Génétique Médicale et INSERM U.242, Hôpital d'Enfants de la Timone, Marseille, France.
Laffage
M
M
Philip
N
N
Passage
E
E
Mattei
M G
MG
Mattei
J F
JF
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
D004247:DNA