Monatsschr Kinderheilkd. 1992 Feb;140(2):91-4.

[ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].

[Article in German]

Kieback P, Wendisch H, Lorenz P, Hinkel K.

Source

Institut für Klinische Genetik, Medizinische Akademie, Dresden, Bundesrepublik Deutschland.

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.

PMID:: 1557060; [PubMed - indexed for MEDLINE]

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Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. [J Med Genet. 1988]
Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.
Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. J Med Genet. 1988 Mar; 25(3):173-80.
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