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. 1995 Nov;32(11):887–890. doi: 10.1136/jmg.32.11.887

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

T T Kirchman 1, M L Levy 1, R A Lewis 1, M H Kanzler 1, D L Nelson 1, A E Scheuerle 1
PMCID: PMC1051742  PMID: 8592334

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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