Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities

• Main Authors: Gabriele Tonni (Author), Mario Lituania (Author), David Chitayat (Author), Maria Paola Bonasoni (Author), Sarah Keating (Author), Megan Thompson (Author), Patrick Shannon (Author)
• Format: Book
• Published: Elsevier, 2014-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in...