Review
[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review]
[Article in
German]
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- PMID: 1557060
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Review
[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review]
[Article in
German]
Monatsschr Kinderheilkd.
1992 Feb.
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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