Incontinentia pigmenti in a newborn male infant with DNA confirmation

Autor:	Carolyn M. Salafia, Carlos Vega-Rich, Jaclyn Landau Roberts, Bernice E. Morrow, Harold M. Nitowsky
Rok vydání:	1998
Předmět:	Genetics Clinical course First pregnancy Physiology Incontinentia pigmenti Biology medicine.disease Phenotype medicine Polymorphic Microsatellite Marker Gene Genetics (clinical) Pigmentation disorder X chromosome
Zdroj:	American Journal of Medical Genetics. 75:159-163
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19980113)75:2<159::aid-ajmg7>3.0.co;2-o
Popis:	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.
Databáze:	OpenAIRE
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