INCONTINENTIA PIGMENTI IN A NEWBORN MALE INFANT WITH DNA CONFIRMATION

We report on a woman with incontinentia pigmenti (IF), who had two suc cessive 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 ful minating clinical course, Polymorphic microsatellite markers, closely linked to the IP gene on the X chromosome, showed that each son inheri ted a different X chromosome from his mother, Although in most instanc es TP appears to be prenatally lethal for the male, the phenotype is n ot completely known. We propose that the neonatal phenotype may be cha racterized by lethal disturbances in the hematopoietic and immunologic systems, (C) 1998 Wiley-Liss, Inc.