A patient with tetrasomy-9p, dandy-walker cyst and hirschsprung disease

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dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.authorBrunoni, Decio [UNIFESP]
dc.contributor.authorPatricio, Francy Reis da Silva [UNIFESP]
dc.contributor.authorCorbani, Mariza
dc.contributor.authorMustacchi, Zan
dc.contributor.authorStocco, Rita de Cassia
dc.contributor.authorLederman, Henrique Manoel [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionHOSP INFANTIL DARCY
dc.contributor.institutionINST BUTANTAN
dc.date.accessioned2018-06-15T13:50:11Z
dc.date.available2018-06-15T13:50:11Z
dc.date.issued1992-01-01
dc.description.abstractThe authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.en
dc.description.affiliationESCOLA PAULISTA MED SCH,DEPT ANAT PATOL,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliationESCOLA PAULISTA MED SCH,DEPT DIAGNOST IMAGEM,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliationHOSP INFANTIL DARCY,SAO PAULO,BRAZIL
dc.description.affiliationINST BUTANTAN,SERV GENET,SAO PAULO,BRAZIL
dc.description.affiliationUnifespESCOLA PAULISTA MED SCH,DEPT ANAT PATOL,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliationUnifespESCOLA PAULISTA MED SCH,DEPT DIAGNOST IMAGEM,BR-04023 SAO PAULO,BRAZIL
dc.description.sourceWeb of Science
dc.format.extent79-84
dc.identifier.citationAnnales De Genetique. Paris: Expansion Sci Francaise, v. 35, n. 2, p. 79-84, 1992.
dc.identifier.issn0003-3995
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/42551
dc.identifier.wosWOS:A1992JJ62600003
dc.language.isoeng
dc.publisherExpansion Sci Francaise
dc.relation.ispartofAnnales De Genetique
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectTetrasomy-9Pen
dc.subjectDandy-walker cysten
dc.subjectHirschsprung diseaseen
dc.titleA patient with tetrasomy-9p, dandy-walker cyst and hirschsprung diseaseen
dc.typeinfo:eu-repo/semantics/article
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