This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of the GCRC protocol is to characterize the Potocki-Lupski syndrome (PTLS), which is known to cause mental retardation, Autism Spectrum Disorder (ASD), congenital cardiovascular disease and sleep apnea. Such characterization is imperative for proper medical and psychiatric management and equally essential for the psychosocial well being of patients and their families. As we and others demonstrated for SMS, these studies are best accomplished in a systematic manner, utilizing a multidisciplinary approach by expert clinicians with a unified goal to delineate its medical and behavioral features. We have an extensive network of clinicians at TCH and have developed a multidisciplinary team to take an active roll in clinical characterization of this condition. Cytogenetic and molecular studies are performed concurrently with these clinical analyses and thus complement this clinical research.
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