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A new patients with pure trisomy 4p resulting from isochromosome formation and whole arm translocation

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dc.contributor.author Zahed L.
dc.contributor.author Oreibi G.
dc.contributor.author El-Amine H.
dc.contributor.author Obeid M.
dc.contributor.author Bitar F.F.
dc.contributor.editor
dc.date Jul-2004
dc.date.accessioned 2017-10-05T16:07:54Z
dc.date.available 2017-10-05T16:07:54Z
dc.date.issued 2004
dc.identifier 10.1002/ajmg.a.30084
dc.identifier.isbn
dc.identifier.issn 15524825
dc.identifier.uri http://hdl.handle.net/10938/20120
dc.description.abstract Short arm isochromosome formation with translocation of the entire long arm of the same chromosome is an unusual constitutional abnormality that has been observed, to our knowledge, in 18 cases. Only one of these previously reported cases involved chromosome 4, resulting in pure trisomy 4p. Pure trisomy 4p has been reported in a number of cases, the majority of them due to familial chromosome rearrangements, and is associated with a distinct pattern of abnormal findings. We report here a second case of a de novo chromosome 4 whole arm translocation with short-arm isochromosome formation, which we have delineated further by FISH studies. © 2004 Wiley-Liss, Inc.
dc.format.extent
dc.format.extent Pages: (60-62)
dc.language English
dc.publisher HOBOKEN
dc.relation.ispartof Publication Name: American Journal of Medical Genetics; Publication Year: 2004; no. 1; Pages: (60-62);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title A new patients with pure trisomy 4p resulting from isochromosome formation and whole arm translocation
dc.type Article
dc.contributor.affiliation Zahed, L., Dept. of Pathol. and Lab. Medicine, Amer. Univ. of Beirut Medical Center, Beirut, Lebanon, Dept. of Pathol. and Lab. Medicine, Amer. Univ. of Beirut Medical Center, P.O. Box 11-236, Beirut, Lebanon
dc.contributor.affiliation Oreibi, G., Dept. of Pathol. and Lab. Medicine, Amer. Univ. of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation El-Amine, H., Dept. of Pathol. and Lab. Medicine, Amer. Univ. of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Obeid, M., Department of Surgery, Amer. Univ. of Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Bitar, F.F., Department of Pediatrics, Amer. Univ. of Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Zahed, L.; Dept. of Pathol. and Lab. Medicine, Amer. Univ. of Beirut Medical Center, P.O. Box 11-236, Beirut, Lebanon; email: lailaz@aub.edu.lb
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Surgery;
dc.contributor.authorDepartment Surgery
dc.contributor.authorDivision
dc.contributor.authorEmail lailaz@aub.edu.lb
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Zahed, L
dc.contributor.authorInitials Oreibi, G
dc.contributor.authorInitials El-Amine, H
dc.contributor.authorInitials Obeid, M
dc.contributor.authorInitials Bitar, FF
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Zahed, L (reprint author), Amer Univ Beirut, Ctr Med, Dept Pathol and Lab Med, POB 11-236, Beirut, Lebanon.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited ANDRE MJ, 1976, ANN GENET, V19, P27; Berend SA, 1999, CLIN GENET, V55, P367, DOI 10.1034-j.1399-0004.1999.550512.x; Cotter PD, 2001, AM J MED GENET, V102, P76, DOI 10.1002-1096-8628(20010722)102:176::AID-AJMG13893.0.CO;2-4; DEALMEIDA JCC, 1991, ANN GENET-PARIS, V34, P108; De Brasi D, 1999, J MED GENET, V36, P422; FUJISAWA H, 1994, SEMIN VIROL, V5, P5, DOI 10.1006-smvy.1994.1002; Garcia-Heras J, 2002, AM J MED GENET, V109, P226, DOI 10.1002-ajmg.10353; LURIE IW, 1995, AM J MED GENET, V55, P62, DOI 10.1002-ajmg.1320550117; MARQUESDEFARIA AP, 1989, AM J MED GENET, V32, P453; PATEL SV, 1995, EUR J PEDIATR, V154, P425, DOI 10.1007-BF02029349; Petit P, 1998, GENET COUNSEL, V9, P215; Reddy KS, 2000, HUM GENET, V107, P268, DOI 10.1007-s004390000360; RIVCERA H, 1999, CLIN GENET, V55, P155; ROBINSON WP, 1994, AM J HUM GENET, V54, P290; Sidwell RU, 2000, J MED GENET, V37, P454, DOI 10.1136-jmg.37.6.454; Tschernigg M, 2002, GENET COUNSEL, V13, P29
dc.description.citedCount 3
dc.description.citedTotWOSCount 3
dc.description.citedWOSCount 3
dc.format.extentCount 3
dc.identifier.articleNo
dc.identifier.coden AJMGD
dc.identifier.pubmedID 15211659
dc.identifier.scopusID 3042786268
dc.identifier.url
dc.publisher.address DIV JOHN WILEY and SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Am. J. Med. Genet. A
dc.relation.ispartOfIssue 1
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle American Journal of Medical Genetics
dc.relation.ispartofPubTitleAbbr Am. J. Med. Genet.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume
dc.source.ID WOS:000222329000014
dc.type.publication Journal
dc.subject.otherAuthKeyword Isochromosome 4p
dc.subject.otherAuthKeyword Trisomy 4p
dc.subject.otherAuthKeyword Whole-arm translocation
dc.subject.otherChemCAS
dc.subject.otherIndex article
dc.subject.otherIndex brain malformation
dc.subject.otherIndex case report
dc.subject.otherIndex chromosome 4p
dc.subject.otherIndex chromosome 4q
dc.subject.otherIndex chromosome arm
dc.subject.otherIndex chromosome rearrangement
dc.subject.otherIndex chromosome translocation
dc.subject.otherIndex congenital heart malformation
dc.subject.otherIndex cytogenetics
dc.subject.otherIndex familial disease
dc.subject.otherIndex female
dc.subject.otherIndex fluorescence in situ hybridization
dc.subject.otherIndex human
dc.subject.otherIndex isochromosome
dc.subject.otherIndex lung atresia
dc.subject.otherIndex multiple malformation syndrome
dc.subject.otherIndex newborn
dc.subject.otherIndex priority journal
dc.subject.otherIndex skeleton malformation
dc.subject.otherIndex trisomy
dc.subject.otherIndex trisomy 4p
dc.subject.otherIndex brain ischemia
dc.subject.otherIndex genetics
dc.subject.otherIndex isochromosome
dc.subject.otherIndex karyotyping
dc.subject.otherIndex multiple malformation syndrome
dc.subject.otherIndex trisomy
dc.subject.otherIndex Abnormalities, Multiple
dc.subject.otherIndex Brain Ischemia
dc.subject.otherIndex Female
dc.subject.otherIndex Humans
dc.subject.otherIndex In Situ Hybridization, Fluorescence
dc.subject.otherIndex Infant, Newborn
dc.subject.otherIndex Isochromosomes
dc.subject.otherIndex Karyotyping
dc.subject.otherIndex Trisomy
dc.subject.otherKeywordPlus DUPLICATION
dc.subject.otherWOS Genetics and Heredity


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