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

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.

Cite this paper

@article{Sullivan1994PrenatalDO, title={Prenatal diagnosis of heterozygous deficiency of the second component of complement.}, author={Kathleen E Sullivan and Jerry A. Winkelstein}, journal={Clinical and diagnostic laboratory immunology}, year={1994}, volume={1 5}, pages={606-7} }