title: Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity?
abstract: Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect.
authors.affiliation: Department of Pediatrics, University of Gothenburg, Göteborg, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Fasth
authors.forename: E
authors.initials: E
authors.lastname: Forestier
authors.forename: E
authors.initials: E
authors.lastname: Holmberg
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: I
authors.initials: I
authors.lastname: Nordenson
authors.forename: T
authors.initials: T
authors.lastname: Söderström
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
mesh_terms: D002503:Centromere / Q000648:ultrastructure; D002873:Chromosome Fragility; D002878:Chromosomes, Human, Pair 1 / Q000648:ultrastructure; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree