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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]
Along with her husband Paul Hagerman, she discovered the Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurological disorder that affects older male and rare female carriers of fragile X. [3] [4] She was recognized on a list of the world's top female scientists [5]
46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis. [11] [12] [13] [6]
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
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[2] 45,X/46,XY is diagnosed by examining the chromosomes in a blood sample. The age of diagnosis varies depending on manifestations of disease prompting reason for cytogenetic testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of serum ), maternal age or abnormal ultrasounds, while ...
Mayo Clinic Proceedings is a monthly peer-reviewed medical journal published by Elsevier and sponsored by the Mayo Clinic. It covers the field of general internal medicine. The journal was established in 1926 as the Proceedings of the Staff Meetings of the Mayo Clinic and obtained its current name in 1964.