title: A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.
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.
authors.affiliation: Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
authors.forename: M I
authors.initials: MI
authors.lastname: Melaragno
authors.forename: D
authors.initials: D
authors.lastname: Brunoni
authors.forename: F R
authors.initials: FR
authors.lastname: Patrício
authors.forename: M
authors.initials: M
authors.lastname: Corbani
authors.forename: Z
authors.initials: Z
authors.lastname: Mustacchi
authors.forename: R de C
authors.initials: Rde C
authors.lastname: dos Santos
authors.forename: H M
authors.initials: HM
authors.lastname: Lederman
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002899:Chromosomes, Human, Pair 9; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male