TY - JOUR T1 - Gonadal mosaicism for incontinentia pigmenti in a healthy male. JF - Journal of Medical Genetics JO - J Med Genet SP - 887 LP - 890 DO - 10.1136/jmg.32.11.887 VL - 32 IS - 11 AU - T T Kirchman AU - M L Levy AU - R A Lewis AU - M H Kanzler AU - D L Nelson AU - A E Scheuerle Y1 - 1995/11/01 UR - http://jmg.bmj.com/content/32/11/887.abstract N2 - 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. ER -