PT  - JOURNAL ARTICLE
AU  - T T Kirchman
AU  - M L Levy
AU  - R A Lewis
AU  - M H Kanzler
AU  - D L Nelson
AU  - A E Scheuerle
TI  - Gonadal mosaicism for incontinentia pigmenti in a healthy male.
AID  - 10.1136/jmg.32.11.887
DP  - 1995 Nov 01
TA  - Journal of Medical Genetics
PG  - 887--890
VI  - 32
IP  - 11
4099  - http://jmg.bmj.com/content/32/11/887.short
4100  - http://jmg.bmj.com/content/32/11/887.full
SO  - J Med Genet1995 Nov 01; 32
AB  - 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.