[Trisomy 21 by mirror duplication 46,XX,psu dic(21)ter rea (21q21q) (author's transl)].
"Mirror image" duplication of chromosome 21 -- 46,XX,pter dic(21)ter rea(21q21q) -- was observed in a patient with the complete phenotype of trisomy 21 and a ses-sesquialtère de la SOD1.
D002503:Centromere; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D000091402:Prohibitins; D013482:Superoxide Dismutase / Q000378:metabolism
C000717331:PHB2 protein, human; D000091402:Prohibitins; D013482:Superoxide Dismutase
Trisomie 21 par duplication en miroir 46,XX,psu dic(21)ter rea(21q21q).