ArticleAmerican journal of medical genetics. Part A2020
Turner syndrome in diverse populations.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 3 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 3 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.American journal of medical genetics. Part A · 2026Pooled it
- Live birth rate after oocyte donation in females diagnosed with turner syndrome: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2024Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Clinical analysis of prenatal diagnosis, ultrasound findings, and follow-up in 92 Turner mosaic fetuses: a retrospective analysis of 12-year experience.BMC pregnancy and childbirth · 2026Article
- Isolated pterygium colli in a child: case report and literature review of surgical techniques.International journal of surgery case reports · 2026Article
- Anxiety in Turner syndrome: Engaging community to address barriers and facilitators to diagnosis and care.American journal of medical genetics. Part A · 2024Article
- Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome.Diagnostics (Basel, Switzerland) · 2024Article
- The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty.International journal of endocrinology · 2023Article
- Health disparities in Turner Syndrome: UTHealth Turner Syndrome Research Registry.Rare disease and orphan drugs journal · 2023Article
- PGCLCs of human 45,XO reveal pathogenetic pathways of neurocognitive and psychosocial disorders.Cell & bioscience · 2022Article
- Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome.Frontiers in genetics · 2022Article
- Facial Recognition Intensity in Disease Diagnosis Using Automatic Facial Recognition.Journal of personalized medicine · 2021Article
- Clinical indicators to define etiology in patients with primary amenorrhea: Lessons from a decade of experience.Journal of family medicine and primary care · 2020Article
Corrections and comments
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Authors and funding
52 authors at 20 institutions in 21 countries.
Funding
Abstract
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.