4/11/2023 0 Comments Mosaic turner syndrome![]() TS with an X-ring chromosome-related phenotype can present with mental disorders, learning difficulties, autism spectrum disorders, craniofacial abnormalities, cardiovascular diseases, and skeletal issues, as well as the other presentations associated with Turner syndrome. In TS, the sSMC usually presents in the form of chimerism, which has its own formation and origin characteristics. In addition, some TS patients carry a small supernumerary marker chromosome (sSMC) whose origin, characteristics, and structure have not yet been identified using traditional chromosome banding technology. TS is a chromosomal disease derived from a complete or partial deletion or structural abnormality of the X chromosome. Its main clinical presentations are short stature, ovarian hypoplasia, webbed neck, valgus, and low hairline. Turner syndrome (TS) occurs in approximately 1/300 to 1/2500 of newborn girls. Taken together, we report a rare case with a mosaic X ring chromosome in Turner syndrome and we believe this case expands our collective knowledge of mosaic structural chromosomal disorders and provides new insight into clinical management and genetic counseling for Turner syndrome. The X ring chromosome was cytogenetically characterized as 45,X/46,X,r(X)(p22.32q21.1), with a length of approximately 74 Mb. Genetic analysis showed a karyotype of mostly 45,X/46,X,r(X). The patient’s clinical characteristics were subsequently documented. Case presentationĪ 10-year-old girl of short stature presenting Turner syndrome was admitted to our hospital. ![]() Here, we report a case with a mosaic X-ring chromosome in a patient with Turner syndrome, and we illustrate the unreported complicated mechanism using chromosome analysis and fluorescence in situ hybridization (FISH). Mosaic X-ring chromosomes are extremely rare and have highly variable phenotypes. ![]() They may also be formed by telomere-telomere fusions with no deletion, resulting in the formation of a complete ring. Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material.
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