Work

Gonadal mosaicism for incontinentia pigmenti in a healthy male.

Year: 1995

Type: article

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.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.32.11.887

Authors: T T Kirchman, M L Levy, R A Lewis, M H Kanzler, D L Nelson, A E Scheuerle

Institutions: Stanford Medicine, Baylor College of Medicine, Stanford University, The University of Texas Health Science Center at Houston

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Human Genome Research Institute