PMID: 9450877Feb 5, 1998Paper

Incontinentia pigmenti in a newborn male infant with DNA confirmation

American Journal of Medical Genetics
J L RobertsH M Nitowsky

Abstract

We report on a woman with incontinentia pigmenti (IP), who had two successive term pregnancies. The first pregnancy ended in the birth of a male infant, who is alive and well at 2 years. A second liveborn male had early postnatal distress and died after 1 day of life, after a fulminating clinical course. Polymorphic microsatellite markers, closely linked to the IP gene on the X chromosome, showed that each son inherited a different X chromosome from his mother. Although in most instances IP appears to be prenatally lethal for the male, the phenotype is not completely known. We propose that the neonatal phenotype may be characterized by lethal disturbances in the hematopoietic and immunologic systems.

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Citations

Aug 23, 2002·Molecular and Cellular Biology·Constantin MakrisMichael Karin
Apr 26, 2003·The British Journal of Ophthalmology·E J MayerS Kenwrick
Mar 7, 2009·Pediatric Annals·Julianne A Mann, Dawn H Siegel
Jan 7, 2004·International Journal of Paediatric Dentistry·S Y ChoB K Drummond
May 2, 2006·Current Opinion in Genetics & Development·David L Nelson
Jul 9, 1999·American Journal of Medical Genetics·J L Roberts
Dec 8, 1998·American Journal of Medical Genetics·K DevriendtV Ballegeer
Apr 21, 2001·The Journal of Clinical Pediatric Dentistry·I TanbogaM Atasu
May 9, 2013·European Journal of Pediatrics·Lucia MargariVanessa Terenzio
Oct 13, 2001·Trends in Molecular Medicine·G CourtoisA Israël

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