title: Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.
abstract: We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar "bird-like" face, growth retardation, and, in some cases, mild-to-moderate mental deficiency. Most of the patients have recurring respiratory tract infections. One girl has developed B-cell lymphoma. A detailed anthropometric study of 15 physical parameters, including 3 cephalic traits, was performed. It was possible to study the chromosomes of PHA-stimulated lymphocytes in all of the patients. We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radioresistant DNA synthesis was strongly increased in all 8 patients who were hitherto studied in this respect. Our patients fulfill the criteria of the Nijmegen breakage syndrome, which belongs to the growing category of ataxia telangiectasia-related genetic disorders. In light of the increased predisposition to malignancy in this syndrome, an accurate diagnosis is important for the patient.
authors.affiliation: Department of Genetics, Memorial Hospital-Child Health Center, Warsaw, Poland.
authors.forename: K H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: M
authors.initials: M
authors.lastname: Białecka
authors.forename: A
authors.initials: A
authors.lastname: Gutkowska
authors.forename: B
authors.initials: B
authors.lastname: Goryluk-Kozakiewicz
authors.forename: J
authors.initials: J
authors.lastname: Michałkiewicz
authors.forename: J
authors.initials: J
authors.lastname: Stachowski
authors.forename: H
authors.initials: H
authors.lastname: Gregorek
authors.forename: G
authors.initials: G
authors.lastname: Lysón-Wojciechowska
mesh_terms: D000293:Adolescent; D000886:Anthropometry; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000276:immunology / Q000473:pathology; D002648:Child; D002652:Child Behavior; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000096:biosynthesis; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D010375:Pedigree; D011044:Poland; D011836:Radiation Tolerance / Q000235:genetics; D013577:Syndrome; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins; D004247:DNA