Turner syndrome in diverse populations

Paul Kruszka, Yonit A. Addissie, Cedrik Tekendo-Ngongang, Kelly L. Jones, Sarah K. Savage, Neerja Gupta, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M. Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba ChitrakarBrenda C. Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M. Duenas-Roque, Meow Keong Thong, Joanna Y.L. Tung, Gary T.K. Mok, Nicole Fleischer, Godfrey M. Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A. Ashaat, Engy A. Ashaat, Brian H.Y. Chung, Eben Badoe, Sultana M.H. Faradz, Mona O. El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha R. Phadke, Antonio Richieri-Costa, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Publication statusPublished - 01-02-2020

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Turner syndrome in diverse populations'. Together they form a unique fingerprint.

Cite this