Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation

Linda A. Cannizzaro, Frederick Hecht

Research output: Contribution to journalArticle

44 Scopus citations

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 translations 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 in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.

Original languageEnglish (US)
Pages (from-to)66-69
Number of pages4
JournalClinical Genetics
Volume32
Issue number1
DOIs
StatePublished - Jul 1987

Keywords

  • Bloch‐Sulzberger syndrome
  • X chromosome
  • X/autosome translocation
  • chromosome localization
  • gene mapping
  • incontinentia pigmenti

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation'. Together they form a unique fingerprint.

  • Cite this