Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.
We describe an extended study of a boy with combined immunodeficiency and centromeric fragility of chromosomes 1 and 16. This case, together with three previously reported cases with similar clinical, immunological and chromosomal features, appears to confirm a specific syndrome of immune deficiency associated with centromeric fragility of chromosomes 1, 9 and 16.
D002478:Cells, Cultured; D002503:Centromere / Q000648:ultrastructure; D002675:Child, Preschool; D002873:Chromosome Fragility; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D013577:Syndrome; D013997:Time Factors