title: [Antibody deficiency syndrome and chromosome aberrations].
abstract: Chromosome analyses were made on culture lymphozytes from peripheral blood in 37 patients with humoral and local antibody deficiency syndrome. In one child with humoral IgA-deficiency a ploidymutation of sex chromosomes - a Klinefelter-Syndrome - and a structural variante of chromosome 16 were detected - karyotype 47, XXY, 16q+. No aberrations of chromosomes 18 and 21 were found out in these phenotypic completely normal children. Patients with secret-IgA-deficiency in mucosae had normal karyotypes. Theoretical aspects of possible connection of antibody deficiency syndrome and chromosomal anomalies are discussed.
mesh_terms: D001424:Bacterial Infections / Q000209:etiology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D004406:Dysgammaglobulinemia; D005260:Female; D006801:Humans; D007070:Immunoglobulin A; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007223:Infant; D008297:Male; D010641:Phenotype
chemical_list: D007070:Immunoglobulin A; D007136:Immunoglobulins
vernacular_title: Antikörpermangelsyndrom und Chromosomenanomalien