title: 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.
authors.affiliation: Division of Allergy, Immunology, and Infectious Diseases, Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
authors.forename: K E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: J A
authors.initials: JA
authors.lastname: Winkelstein
mesh_terms: D000328:Adult; D001483:Base Sequence; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D003175:Complement C2