X-autosome translocation with a 47,XXXY qs,t(9p-;Xq+) karyotype.
A male with a karyotype 47,XXXY qs,t(9p-;Xq+) was ascertained utilizing ASG-banding. The karyotype was repeated because the original diagnosis of Klinefelter syndrome (47,XXY) was inconsistent with many of the stigmata present. It is suggested that many karyotypes completed prior to the advent of banding techniques will be repeated in an attempt to provide more accurate diagnosis, describe more aberrations, and possibly establish new syndromes.
D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D010375:Pedigree; D012730:Sex Chromosomes; D014178:Translocation, Genetic