| Literature DB >> 3621656 |
Abstract
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.Entities:
Mesh:
Year: 1987 PMID: 3621656 DOI: 10.1111/j.1399-0004.1987.tb03326.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438