Two cases of X/autosome translocation in females with incontinentia pigmenti.
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.
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