Gonadal mosaicism for incontinentia pigmenti in a healthy male.
- 1 November 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (11) , 887-890
- https://doi.org/10.1136/jmg.32.11.887
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.Keywords
This publication has 22 references indexed in Scilit:
- Lines of BlaschkoJournal of the American Academy of Dermatology, 1994
- The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28Human Molecular Genetics, 1994
- Mutation of human short tandem repeatsHuman Molecular Genetics, 1993
- Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.Journal of Medical Genetics, 1993
- Identification of a Second Pseudoautosomal Region Near the Xq and Yq TelomeresScience, 1992
- A second-generation linkage map of the human genomeNature, 1992
- Incontinentia pigmenti: XXY male with a family historyClinical Genetics, 1990
- The gene for incontinentia pigmenti is assigned to Xq28Genomics, 1989
- Incontinentia pigmenti in a boy with Klinefelter's syndrome.Journal of Medical Genetics, 1987
- Incontinentia pigmenti in a father and his daughterAmerican Journal of Medical Genetics, 1984