Gonadal mosaicism for incontinentia pigmenti in a healthy male

Tin Tin T Kirchman, Moise L. Levy, Richard A. Lewis, Matthew H. Kanzler, David L. Nelson, Angela E. Scheuerle

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25 Scopus citations


Incontinentia pigmenti (IP) is a genodermatosis that segregates as an X linked dominant trait with male lethality. The disease has been linked to Xq28 in a number of studies. A few affected males have been documented, most of whom have a 47, XXY karyotype. We report a family with two paternally related half sisters, each affected with IP. The father is healthy, clinically normal, and has a 46, XY normal male karyotype. Linkage analysis of 12 polymorphic markers (two X linked and 10 autosomal) confirms paternity. X inactivation studies with the human androgen receptor (HUMARA) indicate that the paternal X chromosome is inactivated preferentially in each girl, implying that this chromosome carries the IP mutation, and that the father is a gonadal mosaic for the IP mutation.

Original languageEnglish (US)
Pages (from-to)887-890
Number of pages4
JournalJournal of medical genetics
Issue number11
StatePublished - Jan 1 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Kirchman, T. T. T., Levy, M. L., Lewis, R. A., Kanzler, M. H., Nelson, D. L., & Scheuerle, A. E. (1995). Gonadal mosaicism for incontinentia pigmenti in a healthy male. Journal of medical genetics, 32(11), 887-890. https://doi.org/10.1136/jmg.32.11.887