A PATIENT WITH TETRASOMY-9P, DANDY-WALKER CYST AND HIRSCHSPRUNG DISEASE

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dc.contributor.author Melaragno, Maria Isabel [UNIFESP]
dc.contributor.author Brunoni, Decio [UNIFESP]
dc.contributor.author Patricio, Francy Reis da Silva [UNIFESP]
dc.contributor.author Corbani, M.
dc.contributor.author Mustacchi, Z.
dc.contributor.author Dossantos, RDS
dc.contributor.author Lederman, Henrique Manoel [UNIFESP]
dc.date.accessioned 2018-06-15T13:50:11Z
dc.date.available 2018-06-15T13:50:11Z
dc.date.issued 1992-01-01
dc.identifier.citation Annales De Genetique. Paris: Expansion Sci Francaise, v. 35, n. 2, p. 79-84, 1992.
dc.identifier.issn 0003-3995
dc.identifier.uri http://repositorio.unifesp.br/11600/42551
dc.description.abstract The 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.format.extent 79-84
dc.language.iso eng
dc.publisher Expansion Sci Francaise
dc.relation.ispartof Annales De Genetique
dc.rights Acesso restrito
dc.subject TETRASOMY-9P en
dc.subject DANDY-WALKER CYST en
dc.subject HIRSCHSPRUNG DISEASE en
dc.title A PATIENT WITH TETRASOMY-9P, DANDY-WALKER CYST AND HIRSCHSPRUNG DISEASE en
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution HOSP INFANTIL DARCY
dc.contributor.institution INST BUTANTAN
dc.description.affiliation ESCOLA PAULISTA MED SCH,DEPT ANAT PATOL,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliation ESCOLA PAULISTA MED SCH,DEPT DIAGNOST IMAGEM,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliation HOSP INFANTIL DARCY,SAO PAULO,BRAZIL
dc.description.affiliation INST BUTANTAN,SERV GENET,SAO PAULO,BRAZIL
dc.description.affiliationUnifesp ESCOLA PAULISTA MED SCH,DEPT ANAT PATOL,BR-04023 SAO PAULO,BRAZIL
dc.description.affiliationUnifesp ESCOLA PAULISTA MED SCH,DEPT DIAGNOST IMAGEM,BR-04023 SAO PAULO,BRAZIL
dc.description.source Web of Science
dc.identifier.wos WOS:A1992JJ62600003



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