title: Two cases of X/autosome translocation in females with incontinentia pigmenti.
abstract: We report two unrelated girls who present some clinical features of severe incontinentia pigmenti (IP), with characteristic skin pigmentation. Both have balanced de novo X/autosome translocations involving band Xp11. The coincidence of the probable de novo expression of an X-linked disorder in these two girls with translocations involving similar breakpoints on the X chromosome suggests that this band may be the site of the IP gene locus.
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D010859:Pigmentation Disorders / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome