[Partial trisomy 21 with 45 chromosomes due to translocation of two chromosomes 21 onto a chromosome 14 : 45,XX-14,-21,+t(14q21q21q) (author's transl)].
A patient with the phenotype of trisomy 21 and increased activity of superoxide dismutase A is reported with partial trisomy for the distal portion of 21q. The exceptional feature in this case is a 45-chromosome karyotype due to the translocation of two chromosomes 21 onto the distal end of 14q.
D002901:Chromosomes, Human, 13-15; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013482:Superoxide Dismutase / Q000378:metabolism; D014178:Translocation, Genetic
D013482:Superoxide Dismutase
Trisomie 21 partielle à 45 chromosomes par translocation de deux 21 sur le 14 : 45,XX,-14,-21,+t(14q21q21q).