{"product_id":"egpcrfxpen","title":"Prenatal Fragile X testing","description":"\u003cp\u003eThe most common inherited cause of mental retardation affecting\u003cbr\u003eapproximately 1 in 4000–6000 male and 1 in 8000–10,000 female. \u003cbr\u003eThe syndrome is associated with an abnormality of the\u003cbr\u003eFragile X Mental Retardation 1 (FMR1) gene located in a fragile site at Xq27.3. This alteration originates from an unstable expansion of CGG trinucleotide repeats within the 5′untranslated region of the FMR1 gene.  \u003cbr\u003eThe normal Individuals have\u003cbr\u003eapproximately 5 to 40 CGG repeatsand individuals who are carriers for FXS have 55 to 200 CGG repeatswhich is classified\u003cbr\u003eas premutation, it is associated with pathological conditions that premature ovarian failurein females and fragile X- associated tremor\/ataxia syndrome (FXTAS) in males. \u003cbr\u003eAlso, the FXS is characterized by the CGG full mutation and\u003cbr\u003emethylation of the cytosine bases, which leads to silencing of transcription and abnormal or absence of the encoded Fragile\u003cbr\u003eX mental retardation protein (FMRP). FMRP is a major protein regulator of the translation of many mRNAs involved in\u003cbr\u003esynaptic plasticity. Since the mutation is X-linked, males are more severely affected than females and males with FXS\u003cbr\u003epredominantly exhibit mental retardation, autism, and behavioral alteration.FXS inheritance depends on the number of\u003cbr\u003eCGG repeats within the promoter of the FMR1 gene and transition from the premutation to full mutationallele can occur\u003cbr\u003ebecause of the expansion phenomenon during the transmission of the maternal X chromosome and rarely the paternal X\u003cbr\u003echromosome carrying a premutation allele to offspring (1-3).\u003c\/p\u003e","brand":"Enigma Genomics","offers":[{"title":"Default Title","offer_id":60790444982558,"sku":"EGPCRFXPEN","price":2400.0,"currency_code":"SAR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0748\/6678\/6590\/files\/enigma-test-icon-general-carrier-v1.png?v=1793571522","url":"https:\/\/shop.enigmagenomics.com\/en\/products\/egpcrfxpen","provider":"Enigma Genomics","version":"1.0","type":"link"}