Two Cases Of Y; Autosome Translocations: A 45,x Male And A Clinically Trisomy 18 Patient.

dc.creatorFarah, S B
dc.creatorRamos, C F
dc.creatorde Mello, M P
dc.creatorSartorato, E L
dc.creatorHorelli-Kuitunen, N
dc.creatorLopes, V L
dc.creatorCavalcanti, D P
dc.creatorHackel, C
dc.date1994-Feb
dc.date2015-11-27T12:18:30Z
dc.date2015-11-27T12:18:30Z
dc.date.accessioned2018-03-29T00:51:18Z
dc.date.available2018-03-29T00:51:18Z
dc.identifierAmerican Journal Of Medical Genetics. v. 49, n. 4, p. 388-92, 1994-Feb.
dc.identifier0148-7299
dc.identifier10.1002/ajmg.1320490407
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/8160730
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/193788
dc.identifier8160730
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294021
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.
dc.description49
dc.description388-92
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectBase Sequence
dc.subjectCells, Cultured
dc.subjectChild
dc.subjectChromosome Banding
dc.subjectChromosomes, Human, Pair 15
dc.subjectChromosomes, Human, Pair 18
dc.subjectDna Primers
dc.subjectHumans
dc.subjectIn Situ Hybridization
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectKaryotyping
dc.subjectMale
dc.subjectMolecular Sequence Data
dc.subjectTranslocation, Genetic
dc.subjectTrisomy
dc.subjectY Chromosome
dc.titleTwo Cases Of Y; Autosome Translocations: A 45,x Male And A Clinically Trisomy 18 Patient.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución