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Gonadal mosaicism for incontinentia pigmenti in a healthy male.
  1. T T Kirchman,
  2. M L Levy,
  3. R A Lewis,
  4. M H Kanzler,
  5. D L Nelson,
  6. A E Scheuerle
  1. Department of Dermatology, Stanford University Medical Center, California 94304, USA.


    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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