Communication Sciences and Disorders Commons^™

Cleft Palate, Retrognathia And Congenital Heart Disease In Velo-Cardio-Facial Syndrome: A Phenotype Correlation Study, Marcia A. Friedman, Nathanial Miletta, Cheryl Roe, Dongliang Wang, Bernice Morrow, Wendy R. Kates, Anne Marie Higgins, Robert J. Shprintzen

Communication Disorders Faculty Publications

Objective: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common genetic relationship to the deleted T-box 1 gene (TBX1). The purpose of this study is to determine if congenital heart disease and cleft palate are correlated …

Mapping Cortical Morphology In Youth With Velocardiofacial (22q11.2 Deletion) Syndrome, Wendy R. Kates, Ravi Bansal, Wanda Fremont, Xuejun Hao, Anne Marie Higgins, Jun Liu, Robert J. Shprintzen, Bradley S. Peterson

Communication Disorders Faculty Publications

Objective: Velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to thirty percent of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia.

Method: Using a longitudinal, case-control design, we acquired anatomic magnetic resonance images to investigate both cross-sectional and longitudinal alterations in surface cortical morphology in a cohort of adolescents with VCFS and age-matched typical controls. All participants were scanned at two time points.

Results: Relative to controls, youth with VCFS exhibited alterations in inferior frontal, dorsal frontal, …