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Article

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

Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde - 1 Feb 1992

Kieback P, Wendisch H, Lorenz P, Hinkel K

Abstract excerpt

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...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 16
Facial Bones
Humans
Immunologic Deficiency Syndromes
Infant
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Phenotype

Syndrome

Source

Identifiers

PMID: 1557060

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1557060-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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