Article
Revisiting the Neuropsychological and Clinical Profile of Mosaic Turner Syndrome With a Ring X Chromosome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2025
Cicione Marisa E, Wong Ashley W, Aragon Eloise, Hague Cole, Cirino Allison L, Scimone Eleanor R, Gochyyev Perman, Lin Angela E
Abstract excerpt
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27...
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