Incontinentia pigmenti in a boy with Klinefelter's syndrome.
A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.
D005799:Genes, Dominant; D005804:Genes, Lethal; D008040:Genetic Linkage; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics*; D014960:X Chromosome