{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:29:01Z","timestamp":1790519341170,"version":"4.1.0"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:p>We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brother had minor signs of the syndrome and had an apparently normal phenotype. Their parents were healthy and non-consanguineous. Chromosome anomalies consisted of homologous and non-homologous associations, chromatid and isochromatid breaks, deletions of whole arms, interchanges in the paracentromeric region, and multibranched configurations of chromosomes 1, 9, and 16. CD bands and fluorescence in situ hybridisation with alphoid DNA sequence probes specific for the centromeres of chromosomes 1 and 16 showed that the centromere was not directly implicated in the formation of multibranched configurations. These cases indicate the autosomal recessive mode of inheritance and the variable expressivity of the ICF syndrome.<\/jats:p>","DOI":"10.1136\/jmg.30.5.429","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"429-432","source":"Crossref","is-referenced-by-count":32,"title":["ICF syndrome with variable expression in sibs."],"prefix":"10.1136","volume":"30","author":[{"given":"G","family":"Gimelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Varone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Pezzolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Lerone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Pistoia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1399-0004.1978.tb02202.x","article-title":"Concurrent instability at specific sites of chromosomes 1, 9, and 16 resulting in multibranched structures","volume":"14","author":"Tiepolo, L.; Maraschio, P.; Gimelli, G.; Cuoco, C.; Gargani, G.F.; Romano, C.","year":"1978","unstructured":"Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C. Concurrent instability at specific sites of chromosomes 1, 9, and 16 resulting in multibranched structures. Clin Genet 1978;14:313-4.","journal-title":"Clin Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1111\/j.1399-0004.1978.tb02170.x","article-title":"Selective somatic pairing and fragility at 1q12 in a boy with a common variable immunodeficiency","volume":"14","author":"Hulten, M.","year":"1978","unstructured":"Hulten M. Selective somatic pairing and fragility at 1q12 in a boy with a common variable immunodeficiency. Clin Genet 1978;14:294.","journal-title":"Clin Genet"},{"key":"ref_3","first-page":"108","article-title":"Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency","volume":"57","author":"Fryns, J.P.; Azou, M.; Jaeken, J.; Eggermont, E.; Pedersen, J.C.; Van den Berghe, H.","year":"1988","unstructured":"Fryns JP, Azou M, Jaeken J, Eggermont E, Pedersen JC, Van den Berghe H. Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency. Hum Genet 1988;57:108-10.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1111\/j.1399-0004.1985.tb00239.x","article-title":"Centromeric instability of chromosomes 1 and 16 with variable immunodeficiency: a new syndrome","volume":"27","author":"Howard, P.J.; Lewis, I.J.; Harris, F.; Walker, S.","year":"1985","unstructured":"Howard PJ, Lewis IJ, Harris F, Walker S. Centromeric instability of chromosomes 1 and 16 with variable immunodeficiency: a new syndrome. Clin Genet 1985; 27:501-5.","journal-title":"Clin Genet"},{"issue":"1","key":"ref_5","first-page":"19","article-title":"Centromeric instability of chromosomes 1, 9, and 16 with variable immunodeficiency. Support of a new syndrome","volume":"31","author":"Valkova, G.; Ghenev, E.; Tzancheva, M.","year":"1987","unstructured":"Valkova G, Ghenev E, Tzancheva M. Centromeric instability of chromosomes 1, 9, and 16 with variable immunodeficiency. Support of a new syndrome. Clin Genet 1987;31:1 19-24.","journal-title":"Clin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/S0022-3476(88)80698-X","article-title":"tion Variable immunodeficiency with abnormal of heterochromatin of chromosomes","volume":"112","author":"Carpenter, N.J.; Filipovich, A.; Blaese, R.M.; Carey, T.L.; Berkel, A.I.","year":"1988","unstructured":"Carpenter NJ, Filipovich A, Blaese RM, Carey TL, Berkel AI. tion Variable immunodeficiency with abnormal of heterochromatin of chromosomes 1, 9, condensaand 16. J Pediatr 1988;112:757-60.","journal-title":"J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1002\/ajmg.1320320331","article-title":"Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies","volume":"32","author":"Turleau, C.; Cabanis, M.O.; Girault, D.","year":"1989","unstructured":"Turleau C, Cabanis MO, Girault D, et al. Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies. Am J7 Med Genet 1989;32:420-4.","journal-title":"Am J7 Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1111\/j.1651-2227.1990.tb11524.x","article-title":"Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings: a recessively inherited entity?","volume":"79","author":"Fasth, A.; Forestier, E.; Holmberg, E.","year":"1990","unstructured":"Fasth A, Forestier E, Holmberg E, et al. Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings: a recessively inherited entity? Acta Paediatr Scand 1990;79:605-12.","journal-title":"Acta Paediatr Scand"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/BF00287166","article-title":"Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency","volume":"51","author":"Tiepolo, L.; Maraschio, P.; Gimelli, G.; Cuoco, C.; Gargani, G.F.; Romano, C.","year":"1979","unstructured":"Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C. Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 1979;51:127-37.","journal-title":"Hum Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1182\/blood.V68.5.1095.1095","article-title":"Large granular lymphocytes (LGL) from patients with expanded LGL populations acquire cytotoxic functions and release lymphokines upon in vitro activation","volume":"68","author":"Pistoia, V.; Prasthofer, E.F.; Tilden, A.B.","year":"1986","unstructured":"Pistoia V, Prasthofer EF, Tilden AB, et al. Large granular lymphocytes (LGL) from patients with expanded LGL populations acquire cytotoxic functions and release lymphokines upon in vitro activation. 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Genomics 1987;1:43-51.","journal-title":"Genomics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2934","DOI":"10.1073\/pnas.83.9.2934","article-title":"Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization","volume":"83","author":"Pinkel, D.; Straume, T.; Gray, J.W.","year":"1986","unstructured":"Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 1986;83:2934-8.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_13","first-page":"452","article-title":"Differential expression of the ICF","volume":"26","author":"Maraschio, P.; Tupler, R.; Dainotti, E.; Piantanida, M.; Cazzola, G.; Tiepolo, L.","year":"1989","unstructured":"Maraschio P, Tupler R, Dainotti E, Piantanida M, Cazzola G, Tiepolo L. Differential expression of the ICF (immomuanloideesf)icmiuetnactyi,onceinntlryommeprhioccyhteetseraoncdhrfoimbartobilna,stfsa.ci7alMaend-Genet 1989;26:452-6."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.5.429","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:57:16Z","timestamp":1760734636000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.5.429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1993,5,1]]},"published-print":{"date-parts":[[1993,5]]}},"alternative-id":["10.1136\/jmg.30.5.429"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.5.429","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,5]]}}}