Turner syndrome in diverse populations.

Autor: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Savage SK; FDNA Inc., Boston, Massachusetts., Gupta N; Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Aravena T; Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Patil SJ; Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore, India., Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Goh JC; Division of Nursing - Nursing Specialist Services, KK Women's and Children's Hospital, Singapore, Singapore., Utari A; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Sihombing N; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mishra R; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Chitrakar NS; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Iriele BC; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Lulseged E; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Megarbane A; Institut Jérôme Lejeune, Paris, France., Uwineza A; College of Medicine and Pharmacy, School of Medicine and Pharmacy, Center of Human Genetics, University of Rwanda, Kigali, Rwanda., Oyenusi EE; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Olopade OB; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Fasanmade OA; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Duenas-Roque MM; Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tung JYL; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Mok GTK; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Fleischer N; FDNA Inc., Boston, Massachusetts., Rwegerera GM; Department of Internal Medicine, University of Botswana, Gaborone, Botswana., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Watts J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., Ashaat NA; Faculty of Women for Science, Ain Shams University, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Badoe E; Department of Child Health, University of Ghana Medical School, Accra, Ghana., Faradz SMH; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., El Ruby MO; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ekure EN; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 303-313. Date of Electronic Publication: 2019 Dec 19.
DOI: 10.1002/ajmg.a.61461
Abstrakt: 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.
(Published 2019. This article is a U.S. Government work and is in the public domain in the USA.)
Databáze: MEDLINE
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