[Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome].
The Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, which belongs to the family of genetically determined instability syndromes and to the growing category of ataxia telangiectasia (AT)--related disorders. The main manifestations include pronounced microcephaly with mental retardation in most patients, "bird-like" facies, growth retardation, immunodeficiency, chromosome instability with multiple chromosome 7 and 14 rearrangements, hypersensitivity to ionizing radiation and normal AFP level. In light of high predisposition to malignancy, an accurate diagnosis is very important for the patient.
Chrzanowska
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Zakład Genetyki Centrum Zdrowia Dziecka w Warszawie.
D000015:Abnormalities, Multiple; D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000175:diagnosis*; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly; D011296:Prenatal Diagnosis; D013577:Syndrome; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins
Małogłowie z niestabilnościa chromosomowa i zaburzeniami odporności--zespół Nijmegen.