Article
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Journal of medical genetics - 1 Aug 2022
Yechieli Michal, Gulsuner Suleyman, Ben-Pazi Hilla, Fattal Aviva, Aran Adi, Kuzminsky Alla, Sagi Liora, Guttman Dafna, Schneebaum Sender Nira, Gross-Tsur Varda, Klopstock Tehila, Walsh Tom, Renbaum Paul, Zeligson Sharon, Shemer Meiri Lilach, Lev Dorit, Shmueli Dorit, Blumkin Luba, Lahad Amnon, King Mary-Claire, Levy Ephrat Lahad, Segel Reeval
Abstract excerpt
OBJECTIVE: To determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP). METHODS: Trio WES of patients with prior CMA analysis for cryptogenic CP, defined as disabling, non-progressive motor symptoms beginning before the age of 3 years without known cause. RESULTS: Given both CMA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.