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Clinical and Diagnostic Laboratory Immunology logoLink to Clinical and Diagnostic Laboratory Immunology
. 1994 Sep;1(5):606–607. doi: 10.1128/cdli.1.5.606-607.1994

Prenatal diagnosis of heterozygous deficiency of the second component of complement.

K E Sullivan 1, J A Winkelstein 1
PMCID: PMC368348  PMID: 8556508

Abstract

Genetically determined C2 deficiency predisposes an individual to recurrent and invasive bacterial infections as well as a variety of rheumatic diseases. Most C2-deficient individuals carry the same 28-bp deletion in the sixth exon of the C2 gene. The present article reports the first prenatal analysis of a sibling of a C2-deficient patient; the sibling was found to be a heterozygous carrier of the 28-bp deletion of C2.

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Selected References

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