Am J Med Genet. 1992 Jul 15;43(5):885-7.

Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.

Journet O, Durandy A, Doussau M, Le Deist F, Couvreur J, Griscelli C, Fischer A, de Saint-Basile G.

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INSERM U 132, Hôpital des Enfants-Malades, Paris, France.

Abstract

We investigated the pregnant mother of a boy with X-linked agammaglobulinemia (XLA) but with no family history of immune disease. The X-inactivation pattern was found, using a methylation-sensitive probe, to be skewed in the maternal B cells but random in the polymorphonuclear cells, indicating carrier status and a 50% risk of inheritance for her male fetus. Using probes assigned to regions on either side of the XLA locus and defining RFL polymorphism, we excluded for the first time a diagnosis of XLA on a chorionic villus sample, with a risk of error less than 0.003. Immunological studies performed at the 19th week of gestation and 3 days after birth confirmed normality. Carrier detection based on the X-chromosome inactivation pattern, together with prenatal studies using probes close to the disease locus, thus permits prenatal diagnosis in families with isolated cases of XLA.

PMID:: 1642281; [PubMed - indexed for MEDLINE]

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Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. [Am J Hum Genet. 1994]
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Cited by 1 PubMed Central article

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. [Am J Hum Genet. 1994]
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