P148: Prevalence, diagnostic features, and medical outcomes of females with mosaic Turner syndrome (45,X/47,XXX): Results from the InsighTS Registry*
Year: 2024
Type: article
Study design: Observational Study
Abstract: Turner Syndrome (TS) occurs in ∼1 in 2000 females due to the partial or complete absence of the second sex chromosome. Approximately half of females with TS have a single monosomy X cell line (45,X), with ∼20% demonstrating mosaicism with a typical cell line (45,X/46,XX), and only ∼3% having mosaicism with a trisomy X cell line (45,X/47,XXX). Previous studies merged these mosaic karyotypes together, so there is limited data reporting the prevalence as well as diagnostic, perinatal, and medical outcomes of females with monosomy X and 47,XXX cell lines.
Source: Genetics in Medicine Open
Institutions: University of Colorado Anschutz, University of Colorado Denver, Children's Hospital of Philadelphia, University of North Carolina at Chapel Hill, Lurie Children's Hospital, University of California San Diego, Children's National, University of Iowa, The University of Texas Health Science Center at Houston
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
Funder: National Science Foundation
OpenAlex ID: W4392589079