Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC3640635 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Wang Xiaoling X Sutton V Reid VR Eble Tanya N TN Lewis Richard Alan RA Gunaratne Preethi P Patel Ankita A Van den Veyver Ignatia B IB
American journal of medical genetics. Part A 20091001 10
Aicardi syndrome is a severe neurodevelopmental disorder that affects females or rarely males with a 47,XXY karyotype. Therefore, it is thought to be caused by heterozygous defects in an essential X-linked gene or by defects in an autosomal gene with sex-limited expression. Because all reported cases are sporadic with one exception, traditional linkage analysis to identify the mutant gene is not possible, and the de novo mutation rate must be high. As an alternative approach to localize the muta ...[more]