Abstract
A further patient with the ICF syndrome (immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies) is described. This case is the second to be reported with consanguinity of the parents. This lends support to the theory of autosomal recessive inheritance. The features of the 15 published cases are reviewed. The clinical and cytogenetic characteristics of the syndrome are discussed, and new evidence provided as to the role of centromeres and centric heterochromatin in the production of chromosome aberrations. Correspondence with other authors has made possible a review of the clinical outcome in this condition.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Carpenter NJ, Filipovich A, Blaese RM, Carey TL, Berkel AI (1988) Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9 and 16. J Pediatr 112:757–760
Fasth A, Forestier E, Holmberg E, Holmgren G, Nordenson I, Soderstrom T, Wahlstrom J (1990) Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. Acta Paediatr Scand 79:605–612
Fryns JP, Azou M, Jaeken J, Eggermont E, Pedersen JC, van den Berghe H (1981) Centromeric instability of chromosomes 1, 9 and 16 associated with combined immunodeficiency. Hum Genet 57:108–110
Gimelli G, Varone P, Pezzolo A, Lerone M, Pistoia V (1993) ICF syndrome with variable expression in sibs. J Med Genet 30:429–432
Howard PJ, Lewis IJ, Harris F, Walker S (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency; a new snydrome. Clin Genet 27:501–505
Hulten M (1978) Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet 14:294
Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet 2:731–735
Kieback P, Wendisch H, Lorenz P, Hinkel K (1992) ICF-Syndrom. Monatsschr Kinderheilkd 140:91–94
Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9 and 16 and facial anomalies: the ICF syndrome. J Med Genet 25:173–180
Schmid M, Grunert D, Haaf T, Engel W (1983) A direct demonstration of somatically paired heterochromatin in human chromosomes. Cytogenet Cell Genet 36:554–561
Smeets DFCM, Moog U, Weemaes CMR, Vaes-Peeters G, Merkx GFM, Niehof JP, Hamers G (1994) ICF syndrome: a new case and review of the literature. Hum Genet 94:240–246
Sumner AT (1991) Scanning electron microscopy of mammalian chromosomes from prophase to telophase. Chromosoma 100:410–418
Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1979) Multibranched chromosomes 1, 9 and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127–137
Turleau C, Cabanis M, Girault D, Ludeist F, Mettey R, Puissant H, Prieur M, de Grouchy J (1989) Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. Am J Med Genet 32:420–424
Valkova G, Ghenev E, Tzancheva M (1987) Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome. Clin Genet 31:119–124
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Brown, D.C., Grace, E., Sumner, A.T. et al. ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome. Hum Genet 96, 411–416 (1995). https://doi.org/10.1007/BF00191798
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00191798