Klinefelter's syndrome and incontinentia pigmenti Bloch-Sulzberger.
We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.
D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics*; D012730:Sex Chromosomes; D013577:Syndrome