Incontinentia pigmenti in a newborn male infant with DNA confirmation

Jaclyn Landau Roberts, Bernice Morrow, Carlos Vega-Rich, Carolyn M. Salafia, Harold M. Nitowsky

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)159-163
Number of pages5
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Jan 13 1998


  • DNA analysis
  • Immune disturbance
  • Incontinentia pigmenti
  • Inflammation
  • Male offspring
  • Neonatal demise
  • X inactivation studies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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