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Cytogenetic and molecular analysis in trisomy 12p

1996; Wiley; Volume: 63; Issue: 1 Linguagem: Inglês

10.1002/(sici)1096-8628(19960503)63

1096-8628

Todd L. Allen, Arthur R. Brothman, John C. Carey, Phillip F. Chance,

Neurofibromatosis and Schwannoma Cases

American Journal of Medical GeneticsVolume 63, Issue 1 p. 250-256 Cytogenetics Cytogenetic and molecular analysis in trisomy 12p Todd L. Allen, Todd L. Allen Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorArthur R. Brothman, Arthur R. Brothman Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorJohn C. Carey, John C. Carey Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorPhillip F. Chance, Corresponding Author Phillip F. Chance Division of Neurology, The Children's Hospital of Philadelphia Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaNeurogenetics Laboratory, 516 Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104Search for more papers by this author Todd L. Allen, Todd L. Allen Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorArthur R. Brothman, Arthur R. Brothman Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorJohn C. Carey, John C. Carey Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City, UtahSearch for more papers by this authorPhillip F. Chance, Corresponding Author Phillip F. Chance Division of Neurology, The Children's Hospital of Philadelphia Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PennsylvaniaNeurogenetics Laboratory, 516 Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104Search for more papers by this author First published: 3 May 1996 https://doi.org/10.1002/(SICI)1096-8628(19960503)63:1 3.0.CO;2-KCitations: 43AboutPDF 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 onFacebookTwitterLinkedInRedditWechat Abstract We studied a male patient with de novo pure trisomy 12p syndrome by molecular analysis and fluorescence in situ hybridization (FISH) with markers from chromosome 12. G-banding studies demonstrated a 46,XY,22p+ karyotype and the banding pattern and clinical findings suggested that the extra chromosomal material was derived from 12p. Trisomy 12p was confirmed by dosage analysis with chromosome 12p markers and FISH analysis with a whole chromosome 12 paint. The de novo re-arranged chromosome was of paternal origin. A comparison of the clinical and cytogenetic findings in this patient was made with previously described cases of trisomy 12p. We propose a classification system for 12p trisomy in order to better characterize the correlative relationships between specific cytogenetic constitution and phenotype. © 1996 Wiley-Liss, Inc. Citing Literature Volume63, Issue13 May 1996Pages 250-256 RelatedInformation