Incontinentia pigmenti in a newborn male infant with DNA confirmation

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

Research output: Contribution to journalArticle

21 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)159-163
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume75
Issue number2
DOIs
StatePublished - Jan 13 1998

Fingerprint

Incontinentia Pigmenti
Newborn Infant
DNA
Phenotype
Hematopoietic System
Pregnancy
X-Linked Genes
X Chromosome
Nuclear Family
Microsatellite Repeats
Mothers
Parturition

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Incontinentia pigmenti in a newborn male infant with DNA confirmation. / Roberts, Jaclyn Landau; Morrow, Bernice E.; Vega-Rich, Carlos; Salafia, Carolyn M.; Nitowsky, Harold M.

In: American Journal of Medical Genetics, Vol. 75, No. 2, 13.01.1998, p. 159-163.

Research output: Contribution to journalArticle

Roberts, Jaclyn Landau ; Morrow, Bernice E. ; Vega-Rich, Carlos ; Salafia, Carolyn M. ; Nitowsky, Harold M. / Incontinentia pigmenti in a newborn male infant with DNA confirmation. In: American Journal of Medical Genetics. 1998 ; Vol. 75, No. 2. pp. 159-163.
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