11p Microdeletion Including WT1 but not PAX6, Presenting with Cataract, Mental Retardation, Genital Abnormalities and Seizures: Case Report
Presented by:
Molecular Cytogenetics / Gitte J Almind, Karen Brondum-Nielsen, Regitze Bangsgaard, Peter Baekgaard and Karen Gronskov
Summary points:
A 15-year-old with mental retardation, bilateral ptosis, genital abnormalities, seizures, and a dysmorphic face presents for cytogenetic evaluation. This case report details the history, clinical presentation, and cytogenic findings, and includes some images. The authors discuss the possible role of specific genes in Potocki-Shaffer and WAGR syndromes.
11p Microdeletion Including WT1 but not PAX6, Presenting with Cataract, Mental Retardation, Genital Abnormalities and Seizures: Case Report
