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However, some people have the tetrasomy in some of their tissues but not in others; this is referred to as the mosaic form of the syndrome, and often results in less severe symptoms. [2] Non-mosaic tetrasomy 9p is most often the result of abnormal chromosome separation during the formation of eggs or sperm.
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]
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.
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]
Full trisomy 9 is a rare and fatal chromosomal disorder caused by having three copies of chromosome number 9.It can be a viable condition if the trisomic component affects only part of the cells of the body or in cases of partial trisomy of the short arm (trisomy 9p) in which cells have a normal set of two entire chromosomes 9 plus part of a third copy of the short arm ("p") of the chromosome.
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]
Identification of 45,X/46,XY karyotype has significant clinical implications due to known effects on growth, hormonal balance, gonadal development and histology. [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.
Gonadectomy is recommended in individuals with Swyer syndrome due to the risk of malignant tumors from the mosaicism in the Y chromosome. [10] Gonadal dysgenesis has also been related to other syndromes such as Wilms tumour-aniridia syndrome (WAGR syndrome). As described in the name, individuals with this syndrome have a Wilms tumor (type of ...