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SUMMARY:Genetics of Turner syndrome: Beyond the classic 45\, X
DESCRIPTION:Wednesday\, April 3\, 2024\, 5:00 PM EST \nSession Type SIG: State of the Art: Turner syndrome SIG \nSession Title Genetics of Turner syndrome: Beyond the classic 45\, X \nBrief Description \nThe webinar will provide a brief overview of the current genetic landscape of Turner syndrome with a focus on the clinical utility of different genetic tests and interpretations for the endocrine clinician. \n  \nLearning Objectives  \n\nDiscuss the new genetic guidelines for what meets the criteria for Turner syndrome (TS) and address the incidental diagnosis of TS\nDiscuss the possibility of neonatal screening\, the current utility of NIPT\, and the role of different genetic testing modalities (karyotype\, FISH\, microarray\, WGS\, etc) in TS.\nReview mosaic TS and counseling re: low-level mosaicism\, known genotype/phenotype correlations in TS\, and co-occurrence of other genetic conditions with TS.\n\n  \nSpeaker Name \nMelissa L. Crenshaw\, M.D.\, FAAP\, FACMG \nAssistant Professor\, \nPediatrics Johns Hopkins University School of Medicine Director\, \nMedical Genetics Services Chief\, \nDivision of Genetics Johns Hopkins All Children’s Hospital \nView Recording
URL:https://pedsendo.org/event/genetics-of-turner-syndrome-beyond-the-classic-45-x/
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