Genomic characterization of chromosome 8 pericentric trisomy.
We present a patient with trisomy 8p11.21q11.21 associated with language, gross motor, fine motor, and cognitive delay. Furthermore, using array-based comparative genomic hybridization, we identify the specific genes duplicated in our patient.
Division of Pediatric Neuroscience, Stollery Children Hospital, University of Alberta Edmonton, Alberta, Canada.
Juliana H
JH
Vander Pluym
Division of Pediatric Neuroscience, Stollery Children Hospital, University of Alberta Edmonton, Alberta, Canada.
Julia
J
O'Sullivan
Division of Neurodevelopmental and Neuromotor Pediatrics, University of Alberta Edmonton, Alberta, Canada.
Gail
G
Andrew
Division of Pediatric Neuroscience, Stollery Children Hospital, University of Alberta Edmonton, Alberta, Canada ; Neuroscience and Mental Health Institute, University of Alberta Edmonton, Alberta, Canada.
Francois V
FV
Bolduc
Ankyrin; Array-based comparative genomic hybridization; Duplication chromosome 8p11.21q11.21; global developmental delay