Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies

American Journal of Medical GeneticsVolume 79, Issue 2 p. 103-107 Partial tetrasomy with triplication of chromosome (5) (p14-p15.33) in a patient with severe multiple congenital anomalies Karen J. Harrison, Karen J. Harrison Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorIkuko E. Teshima, Ikuko E. Teshima Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorMeredith M. Silver, Meredith M. Silver Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorVenita Jay, Venita Jay Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorSheila Unger, Sheila Unger Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorWendy P. Robinson, Wendy P. Robinson Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, CanadaSearch for more papers by this authorAndrew James, Andrew James Department of Pediatrics, Neonatal Intensive Care Unit, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorAlex Levin, Alex Levin Department of Pediatrics, Division of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorDavid Chitayat, Corresponding Author David Chitayat dchitayat@torhosp.toronto.on.ca Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Prenatal Diagnosis Program, The Toronto Hospital (General Division), University of Toronto, Toronto, Ontario, CanadaThe Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada, M5G 2C4Search for more papers by this author Karen J. Harrison, Karen J. Harrison Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorIkuko E. Teshima, Ikuko E. Teshima Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorMeredith M. Silver, Meredith M. Silver Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorVenita Jay, Venita Jay Department of Laboratory Medicine and Pathobiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorSheila Unger, Sheila Unger Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorWendy P. Robinson, Wendy P. Robinson Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, CanadaSearch for more papers by this authorAndrew James, Andrew James Department of Pediatrics, Neonatal Intensive Care Unit, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorAlex Levin, Alex Levin Department of Pediatrics, Division of Ophthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorDavid Chitayat, Corresponding Author David Chitayat dchitayat@torhosp.toronto.on.ca Department of Pediatrics, Division of Clinical Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada Prenatal Diagnosis Program, The Toronto Hospital (General Division), University of Toronto, Toronto, Ontario, CanadaThe Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada, M5G 2C4Search for more papers by this author First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19980901)79:2<103::AID-AJMG5>3.0.CO;2-RCitations: 19AboutPDF 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 onFacebookTwitterLinked InRedditWechat Abstract We report on a newborn infant with a de novo triplication of the distal segment of 5p: 46,XX,trp(5)(pter→p14::p14→p15.33::p15.33→qter) and multiple congenital anomalies consistent with triplication of 5p. Partial triplication was documented by fluorescence in situ hybridization with a cosmid probe specific for 5p15.2 and microdissected probes obtained from "5pter." Partial duplication of the short arm of chromosome 5 is associated with a specific phenotype that appears to be dependent on the chromosomal region duplicated. Duplication of 5p with breakpoints proximal to band p14 is generally associated with distinct craniofacial malformations, cardiac, renal, intestinal, and limb defects, and mental retardation, whereas duplications with breakpoints distal to 5p14 result in a milder phenotype characterized by minor facial anomalies, developmental delay, and seizures. The most proximal breakpoints of the partial triplication in this patient was estimated to be 5p14, suggesting that a more severe phenotype can occur with triplication of the more distal segment. Am. J. Med. Genet. 79:103–107, 1998. © 1998 Wiley-Liss, Inc. Citing Literature Volume79, Issue21 September 1998Pages 103-107 RelatedInformation