2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT

dc.creatorFARAH, SB
dc.creatorRAMOS, CF
dc.creatorDEMELLO, MP
dc.creatorSARTORATO, EL
dc.creatorHORELLIKUITUNEN, N
dc.creatorLOPES, VLGS
dc.creatorCAVALCANTI, DP
dc.creatorHACKEL, C
dc.date1994
dc.dateFEB 15
dc.date2014-12-16T11:31:36Z
dc.date2015-11-26T17:49:33Z
dc.date2014-12-16T11:31:36Z
dc.date2015-11-26T17:49:33Z
dc.date.accessioned2018-03-29T00:32:38Z
dc.date.available2018-03-29T00:32:38Z
dc.identifierAmerican Journal Of Medical Genetics. Wiley-liss, v. 49, n. 4, n. 388, n. 392, 1994.
dc.identifier0148-7299
dc.identifierWOS:A1994MU54400005
dc.identifier10.1002/ajmg.1320490407
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/52540
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/52540
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/52540
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1289415
dc.descriptionWe report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. (C) 1994 Wiley-Liss, Inc.
dc.description49
dc.description4
dc.description388
dc.description392
dc.languageen
dc.publisherWiley-liss
dc.publisherNew York
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectCHROMOSOME Y-SPECIFIC PROBES
dc.subjectNORMAL EXTERNAL GENITALIA
dc.subjectSex-determining Region
dc.subjectHuman Xx-males
dc.subjectYp/18 Translocation
dc.subjectMolecular-detection
dc.subjectChromosome-y
dc.subjectDeletion Map
dc.subjectDna Probes
dc.subjectGene
dc.subjectSpermatogenesis
dc.subjectHybridization
dc.title2 CASES OF YAUTOSOME TRANSLOCATIONS - A 45,X MALE AND A CLINICALLY TRISOMY-18 PATIENT
dc.typeArtículos de revistas


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