A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.
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.
Melaragno
M I
MI
Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
Brunoni
D
D
Patrício
F R
FR
Corbani
M
M
Mustacchi
Z
Z
dos Santos
R de C
Rde C
Lederman
H M
HM
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