Regular G21-trisomy in 3 sibs from mother with trisomy 21 mosaicism.
This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.
D000293:Adolescent; D000328:Adult; D002648:Child; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic