Artigo Revisado por pares

Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review

1999; Wiley; Volume: 88; Issue: 9 Linguagem: Inglês

10.1111/j.1651-2227.1999.tb00205.x

ISSN

1651-2227

Autores

Akira Endo, T Uesato, Michiyoshi Minato, Misato Takada, Sakae Takahashi, Keita Harada,

Tópico(s)

Congenital Ear and Nasal Anomalies

Resumo

Acta PaediatricaVolume 88, Issue 9 p. 1040-1043 Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review A Endo, Corresponding Author A Endo Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanA Endo, Department of Pediatrics, Nihon University School of Medicine, Oyaguchi-Kamimachi 30—1, Itabashi-ku, Tokyo 173-8610, Japan (Tel. +81 03 3972 8111 ext. 2442, fax. +81 03 3957 6183)Search for more papers by this authorT Uesato, T Uesato Tokyo, Japan; Division of Pediatrics, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorM Minato, M Minato Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorM Takada, M Takada Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorS Takahashi, S Takahashi Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorK Harada, K Harada Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this author A Endo, Corresponding Author A Endo Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanA Endo, Department of Pediatrics, Nihon University School of Medicine, Oyaguchi-Kamimachi 30—1, Itabashi-ku, Tokyo 173-8610, Japan (Tel. +81 03 3972 8111 ext. 2442, fax. +81 03 3957 6183)Search for more papers by this authorT Uesato, T Uesato Tokyo, Japan; Division of Pediatrics, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorM Minato, M Minato Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorM Takada, M Takada Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorS Takahashi, S Takahashi Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this authorK Harada, K Harada Department of Pediatrics, Nihon University School of Medicineaf, Aiwa Hospital, Kawagoe, JapanSearch for more papers by this author First published: 02 January 2007 https://doi.org/10.1111/j.1651-2227.1999.tb00205.xCitations: 6AboutPDF 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 References 1 Ono K, Suzuki Y, Fujii I, Takeshita K, Arima M, Nakagome Y. A case of ring chromosome E 17: 46, XX, r(17)(p13q25). Jpn J Hum Genet 1974; 19: 235–42 (in Japanese) CASPubMedWeb of Science®Google Scholar 2 Quazi QH, Madahar C, Kanchanapoomi R, Giridharan R, Beller E. Ring chromosome 17 in a mentally retarded boy. Ann Genet 1979; 22: 234–8. PubMedGoogle Scholar 3 Carpenter NJ, Leichtman LG, Stamper S, Say B. An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome Med Genet 1981; 18: 234–6 10.1136/jmg.18.3.234 PubMedWeb of Science®Google Scholar 4 Chudley AE, Pabello FD, McAlpine PJ, Nickel BE, Shokeir MHK. Ring chromosome 17 in a mentally retarded young man-clinical, cytogenic, and biochemical investigations. Am J Med Genet 1982; 12: 219–25. 10.1002/ajmg.1320120212 CASPubMedWeb of Science®Google Scholar 5 Dobyns WB, Station RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. The Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr 1983; 102: 552–8. 10.1016/S0022-3476(83)80183-8 CASPubMedWeb of Science®Google Scholar 6 Lambruschini FN, Ortola MEC, Resell JA, Ballesta FM. Cromosoma 17 en anillo neumopata recidivante. An Esp Pediatr 1989; 31: 478–80. PubMedGoogle Scholar 7 Sharief N, Craze J, Summers D, Butler L, Wood CBS. MillerDieker syndrome with ring chromosome 17. Arch Dis Child 1991; 66: 710–2. 10.1136/adc.66.6.710 CASPubMedWeb of Science®Google Scholar 8 Teyssier M, Charrin C, Corgiolu Theuil G, David L. Ring chromosome 17: case report and review of the literature. Ann Genet 1992; 35: 75–8. CASPubMedWeb of Science®Google Scholar 9 Wiktor A, Van Dyke DL, Weiss L. Characterization of a de novo 48, XX, +r(X), +r(17) by in situ hybridization in a patient with neurofibromatosis (NFl). Am J Med Genet 1993; 45: 22–4. 10.1002/ajmg.1320450108 CASPubMedWeb of Science®Google Scholar 10 Rosenberg C, Borovik CL, Canonaco RS, Sichero LC, Queiroz APS, Vianna-Morgante AM. Identification of a supernumerary marker derived from chromosome 17 using FISH. Am J Med Genet 1995; 59: 33–5. 10.1002/ajmg.1320590107 CASPubMedWeb of Science®Google Scholar 11 Morrison PJ, Smith NM, Martin KE, Young ID. Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisation. Am J Med Genet 1997; 68: 50–3. 10.1002/(SICI)1096-8628(19970110)68:1 3.0.CO;2-1 CASPubMedWeb of Science®Google Scholar 12 Cote GB, Katsantonia A, Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 1981; 24: 231–5. CASPubMedWeb of Science®Google Scholar Citing Literature Volume88, Issue9September 1999Pages 1040-1043 ReferencesRelatedInformation

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