Turner syndrome pdf info
Compared to the general population, patients with TS have an increased incidence of celiac disease depending on the number of patients studied, its prevalence varies from 2.2 to 8.1%. The incidence of Hashimoto's thyroiditis in children with TS is significantly higher than that in other regions ( 23). Chinese (Han) patients with TS are prone to Hashimoto's thyroiditis ( 22) the prevalence of Hashimoto's thyroiditis in the general population in China is about 0.4-1.5%. Follow-up studies have indicated that the incidence of autoimmune thyroiditis in patients with TS is 3.2% ( 21). TS causes a variety of autoimmune diseases such as thyroiditis, colitis, celiac disease, type 1 diabetes, and psoriasis, though the most common is autoimmune thyroiditis ( 20). Secondary autoimmune disease is one of the most prominent features of TS due to aneuploidy of the X chromosome ( 19). Karyotypes of patients with TS in several Chinese cities are listed in Table 1.
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The 45,X karyotype was the main karyotype in those areas. A karyotype analysis of 62 patients with TS in Linyi identified the 45,X karyotype in 40.3%, a mosaic karyotype in 8.1%, a karyotype with a structural abnormality in 43.5%, and a karyotype that included the Y chromosome or fragments of the Y chromosome in 8.1% ( 6). A karyotype analysis of 67 patients with TS in Suzhou, China identified the 45,X karyotype in 44.7%, a mosaic karyotype in 17.9%, a karyotype with a chromosomal structural abnormality in 31.4%, and a karyotype that included the Y chromosome or fragments of the Y chromosome in 6.0% ( 5). i(Xq) or i(Xp)), or a karyotype that included the Y chromosome or fragments of the Y chromosome ( 4). 45,X/46,XX or 45,X/47,XXX), a karyotype with an X chromosome structural abnormality ( e.g. In a recent study, the classic karyotype was only found in 45% of patients the remaining patients had a mosaic karyotype ( i.e. The genetic background of the phenotype is highly variable, and analysis of the karyotype can improve understanding of the disease. This article mainly describes the epidemiology, diagnosis, treatment, and complications of TS.
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The overall mortality rate for patients with TS is higher than that for normal people because of the higher incidence of cardiovascular disease and autoimmune diseases. Other characteristics include a short neck, a broad chest, genu valgum, and nail dysplasia. The main phenotypic characteristic of patients with TS is a short stature, which is common to all patients. Monosomy 45,X is present in about 45% of cases, the remaining TS patients show a variety of chimeras and structural abnormalitie ( 3). The features of TS were first described by Turner in 1938, pathogenicity X chromosome monosomy was identified in 1959 ( 2). TS is a relatively common type of human chromosomal aberration ( 1) that occurs in 1:2,500 female live births. This is the only monomer syndrome that humans can survive. Turner syndrome (TS) occurs when the X chromosome is completely or partially missing in females.