Related Experiment Videos
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease
M I Melaragno1, D Brunoni, F R Patrício
1Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
Annales De Genetique
|January 1, 1992
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.