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ICF syndrome with variable expression in sibs

G Gimelli1, P Varone, A Pezzolo

  • 1Laboratorio di Citogenetica, Istituto G Gaslini, Genova, Italy.

Journal of Medical Genetics
|May 1, 1993
PubMed
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This study details a familial case of Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome, highlighting its autosomal recessive inheritance and variable expressivity. The findings reveal significant chromosomal instability in affected siblings, impacting their health and development.

Area of Science:

  • Genetics
  • Immunology
  • Human Pathology

Background:

  • Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome is a rare autosomal recessive disorder.
  • Characterized by immune deficiencies, facial dysmorphia, and centromeric instability in specific chromosomes.

Observation:

  • A familial case involving a 29-year-old woman and her 30-year-old brother with ICF syndrome is presented.
  • The proband exhibited mental retardation, facial anomalies, recurrent infections, immunoglobulin deficits (IgM, IgE), and paracentromeric heterochromatin instability in chromosomes 1, 9, and 16.
  • The brother presented with milder symptoms and a near-normal phenotype.

Findings:

  • Detailed chromosomal analysis revealed extensive anomalies including homologous/non-homologous associations, breaks, deletions, and multibranched configurations of chromosomes 1, 9, and 16.

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  • Fluorescence in situ hybridization confirmed centromeres were not directly involved in the multibranched configurations.
  • The observed chromosomal abnormalities underscore the genetic basis of ICF syndrome.

    • Implications:

    • These findings support the autosomal recessive inheritance pattern of ICF syndrome.
    • The study demonstrates significant variable expressivity, where affected individuals can present with vastly different clinical manifestations.
    • Understanding these genetic and phenotypic variations is crucial for accurate diagnosis and genetic counseling in families with ICF syndrome.