The Turner Syndrome with Isochromosome X and Hashimoto's Thyroiditis

Case Studies1 July 1967The Turner Syndrome with Isochromosome X and Hashimoto's ThyroiditisROBERT S. SPARKES, M.D., ARNO G. MOTULSKY, M.D., F.A.C.P.ROBERT S. SPARKES, M.D.Search for more papers by this author, ARNO G. MOTULSKY, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-67-1-132 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptMost patients with the Turner syndrome are readily recognized on the basis of the clinical description given by Turner (1), although webbing of the neck and cubitus valgus seem to be less constant features than short stature and sexual infantilism. The variability of the clinical picture of the syndrome in both adults and children has previously been well-documented (2-4). Several different chromosomal anomalies involving absence of an entire X chromosome or part thereof have been described. Comparison of the clinical and the chromosomal findings in such patients has led Ferguson-Smith (5) to hypothesize that deletion of the short arm of...References1. TURNER HH: A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23: 566, 1938. CrossrefGoogle Scholar2. DE LA CHAPELLE A: Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocr. (Helsingfors) 65 (suppl.): 1, 1962. Google Scholar3. LINDSTEN J: The Nature and Origin of X Chromosome Aberrations in Turner's Syndrome. A Cytogenetical and Clinical Study of 57 Patients. Almqvist & Wiksells, Stockholm, 1963. Google Scholar4. LEMLISMITH LDW: The XO syndrome. A study of the differentiated phenotype in 25 patients. J. Pediat. 63: 577, 1963. CrossrefMedlineGoogle Scholar5. FERGUSON-SMITH MA: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2: 142, 1965. CrossrefMedlineGoogle Scholar6. 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To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Seattle, WashingtonFrom the Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Wash.This study was supported in part by grants H-03091 and GM 182, U. S. Public Health Service, Washington, D. C.Requests for reprints should be addressed to Robert S. Sparkes, M.D., Department of Medicine, UCLA School of Medicine, Los Angeles, Calif. 90024. 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BECKER, M.D., SAUL W. ROSEN, M.D., PH.D., KARL ENGELMAN, M.D.AUTOANTIBODIES IN DOWN'S SYNDROME AND GONADAL DYSGENESISAUTOANTIBODIES IN DOWN'S SYNDROME AND GONADAL DYSGENESIS 1 July 1967Volume 67, Issue 1Page: 132-144KeywordsBlood banksBlood groupsChildrenChromosomesMedical geneticsMedical servicesThyroidTurner syndromeX chromosomes Issue Published: 1 July 1967 PDF downloadLoading ...