title: Incontinentia pigmenti in a newborn male infant with DNA confirmation.
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.
authors.affiliation: Department of Ob/Gyn, Albert Einstein College of Medicine-Montefiore Medical Center, Bronx, New York, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Roberts
authors.forename: B
authors.initials: B
authors.lastname: Morrow
authors.forename: C
authors.initials: C
authors.lastname: Vega-Rich
authors.forename: C M
authors.initials: CM
authors.lastname: Salafia
authors.forename: H M
authors.initials: HM
authors.lastname: Nitowsky
mesh_terms: D000328:Adult; D000483:Alleles; D004247:DNA / Q000737:chemistry*; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
chemical_list: D004247:DNA