Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation.
Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D010859:Pigmentation Disorders / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*