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  • Title: [ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].
    Author: Kieback P, Wendisch H, Lorenz P, Hinkel K.
    Journal: Monatsschr Kinderheilkd; 1992 Feb; 140(2):91-4. PubMed ID: 1557060.
    Abstract:
    Instability of the heterochromatic centromeric regions of chromosomes 1 and 16 associated with immunodeficiency (decreased IgA, IgG and IgM) and facial dysmorphism were found in a 1 1/2 year old boy. 64.5% of his lymphocytes had chromosomal abnormalities: Stretching of the heterochromatic centromeric regions of the chromosomes 1 and 16, homologous and non-homologous associations and multi-branched configurations of chromosomes 1 and 16. Similar phenotypic and chromosomal abnormalities were described in 8 previously by published cases.
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