48, XXXY Klinefelter syndrome and nail-patella syndrome in the same child.
A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009261:Nail-Patella Syndrome / Q000235:genetics*; D012730:Sex Chromosomes