Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 21 (5) , 293-296
- https://doi.org/10.1111/j.1399-0004.1982.tb01374.x
Abstract
Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model was invoked. Four cases of American Indians with IP are reported. Two girls had sporadic IP. One affected boy''s mother had IP. This is the 1st report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.Keywords
This publication has 2 references indexed in Scilit:
- Incontinentia PigmentiArchives of Dermatology, 1976
- Systematisierte Naevusbildungen bei einem eineiigen ZwillingspaarEuropean Journal of Pediatrics, 1925