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

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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
Volume32
Issue number11
DOIs
StatePublished - 1995

Fingerprint

Incontinentia Pigmenti
Mosaicism
father
Karyotype
Fathers
Disease
X Chromosome Inactivation
X-Linked Genes
Paternity
Mutation
X Chromosome
Siblings
Chromosomes

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Health(social science)
  • Genetics
  • Genetics(clinical)

Cite this

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

Gonadal mosaicism for incontinentia pigmenti in a healthy male. / Kirchman, Tin Tin T; Levy, Moise L.; Lewis, Richard A.; Kanzler, Matthew H.; Nelson, David L.; Scheuerle, Angela E.

In: Journal of Medical Genetics, Vol. 32, No. 11, 1995, p. 887-890.

Research output: Contribution to journalArticle

Kirchman, TTT, Levy, ML, Lewis, RA, Kanzler, MH, Nelson, DL & Scheuerle, AE 1995, 'Gonadal mosaicism for incontinentia pigmenti in a healthy male', Journal of Medical Genetics, vol. 32, no. 11, pp. 887-890. https://doi.org/10.1136/jmg.32.11.887
Kirchman, Tin Tin T ; Levy, Moise L. ; Lewis, Richard A. ; Kanzler, Matthew H. ; Nelson, David L. ; Scheuerle, Angela E. / Gonadal mosaicism for incontinentia pigmenti in a healthy male. In: Journal of Medical Genetics. 1995 ; Vol. 32, No. 11. pp. 887-890.
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