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Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies

1998; Wiley; Volume: 80; Issue: 5 Linguagem: Inglês

10.1002/(sici)1096-8628(19981228)80

1096-8628

Cesare Danesino, Francesco Pasquali, Claudia Dellavecchia, Emanuela Maserati, Antonella Minelli, Laura Seghezzi,

Chromosomal and Genetic Variations

American Journal of Medical GeneticsVolume 80, Issue 5 p. 540-540 Letter to the Editor Constitutional trisomy 8 mosaicism: Mechanism of origin, phenotype variability, and risk of malignancies Cesare Danesino, Corresponding Author Cesare Danesino [email protected] Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalyBiologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I 27100 Pavia, ItalySearch for more papers by this authorFrancesco Pasquali, Francesco Pasquali Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorClaudia Dellavecchia, Claudia Dellavecchia Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorEmanuela Maserati, Emanuela Maserati Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorAntonella Minelli, Antonella Minelli Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorLaura Seghezzi, Laura Seghezzi Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this author Cesare Danesino, Corresponding Author Cesare Danesino [email protected] Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalyBiologia Generale e Genetica Medica, Università di Pavia, C.P. 217, I 27100 Pavia, ItalySearch for more papers by this authorFrancesco Pasquali, Francesco Pasquali Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorClaudia Dellavecchia, Claudia Dellavecchia Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorEmanuela Maserati, Emanuela Maserati Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorAntonella Minelli, Antonella Minelli Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this authorLaura Seghezzi, Laura Seghezzi Biologia Generale e Genetica Medica, Università di Pavia, Pavia, ItalySearch for more papers by this author First published: 29 January 1999 https://doi.org/10.1002/(SICI)1096-8628(19981228)80:5 3.0.CO;2-8Citations: 8AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES DeBrasi D, Genuardi M, D'Agostino A, Calvieri F, Tozzi C, Varrone S, Neri G (1995): Double autosomal/gonosomal mosaic aneuploidy: Study of nondisjunction in two cases with trisomy of chromosome 8. Hum Genet 95: 519–525. Habecker-Green J, Naeem R, Goh W, Pflueger S, Murray M, Cohn G (1998): Reproduction in a patient with trisomy 8 mosaicism: Case report and literature review. Am J Med Genet 75: 382–385. James RS, Jacobs PA (1996): Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population. Hum Genet 97: 283–286. Karadima G, Avramopoulos D, Grigoriadou M, Petersen MB, and the Members of the Trisomy 8 Collaborative Study (1997): Nondisjunction studies in trisomy 8. Athens: 1st European Cytogenetics Conference, 22–25 June 1997, Cytogenet Cell Genet (Abstracts) 77:79. Nakamura Y, Nakashima H, Fukuda S, Hashimoto T, Maruyama M (1985): Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism. Hum Pathol 16: 754–756. Niss R, Passarge E (1976): Trisomy 8 restricted to cultured fibroblasts. J Med Genet 13: 229–234. Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O (1997): Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): Imprinting effect or nullisomy for distal 8p genes? Hum Genet 99: 766–771. Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA (1995): Molecular studies of chromosomal mosaicism: Relative frequency of chromosome gain or loss and possible role of cell selection. Am J Hum Genet 56: 444–451. Schinzel A (1994): Human Cytogenetics Database. Oxford: Oxford University Press. Seghezzi L, Maserati E, Minelli A, Dellavecchia C, Addis P, Locatelli F, Angioni A, Balloni P, Miano C, Cavalli P, Danesino C, Pasquali F (1996): Constitutional trisomy 8 as first mutation in multistep carcinogenesis: Clinical, cytogenetic, and molecular data on three cases. Genes Chromosomes Cancer 17: 94–101. Citing Literature Volume80, Issue528 December 1998Pages 540-540 ReferencesRelatedInformation