@article {Kirchman887, author = {T T Kirchman and M L Levy and R A Lewis and M H Kanzler and D L Nelson and A E Scheuerle}, title = {Gonadal mosaicism for incontinentia pigmenti in a healthy male.}, volume = {32}, number = {11}, pages = {887--890}, year = {1995}, doi = {10.1136/jmg.32.11.887}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/32/11/887}, eprint = {https://jmg.bmj.com/content/32/11/887.full.pdf}, journal = {Journal of Medical Genetics} }