PMID: 8592334Nov 1, 1995Paper

Gonadal mosaicism for incontinentia pigmenti in a healthy male

Journal of Medical Genetics
T T KirchmanA E Scheuerle

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.

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Citations

Apr 1, 1996·Journal of Medical Genetics·E Hatchwell
Nov 1, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·I Llano-RivasJ Fernández-Toral
Oct 24, 2001·American Journal of Human Genetics·S KenwrickUNKNOWN International IP Consortium
Jun 28, 2011·Molecular Genetics and Metabolism·Ying WangSteven Steinberg
Oct 30, 2016·The British Journal of Dermatology·E RashidghamatJ A McGrath
Feb 5, 1998·American Journal of Medical Genetics·J L RobertsH M Nitowsky
Jan 27, 2020·Annales de dermatologie et de vénéréologie·A ChambellandUNKNOWN Société française de dermatologie pédiatrique research group
Feb 18, 2011·Reproductive Biomedicine Online·Svetlana RechitskyAnver Kuliev

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