{"id":33780,"date":"2022-11-26T11:08:38","date_gmt":"2022-11-26T11:08:38","guid":{"rendered":"https:\/\/gyncentrum.pl\/nosicielstwo-chorob-genetycznych\/frax-zespol-lamliwego-chromosomu-x-2\/"},"modified":"2024-02-21T12:50:41","modified_gmt":"2024-02-21T12:50:41","slug":"frax-fragile-x-chromosome-syndrome","status":"publish","type":"servies","link":"https:\/\/gyncentrum.pl\/en\/carrying-genetic-diseases\/frax-fragile-x-chromosome-syndrome\/","title":{"rendered":"FRAX – fragile X chromosome syndrome"},"content":{"rendered":"\n
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FRAX – fragile X chromosome syndrome<\/h3>\n
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\n \n \n Home<\/a>\n \"\"\n \n Carrying genetic diseases<\/a>\n \n FRAX – fragile X chromosome syndrome<\/span>\n <\/span>\n <\/span>\n <\/span>\n <\/div>\n\n \n\n\n
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\n \n \n Home<\/a>\n \"\"\n \n Carrying genetic diseases<\/a>\n \n FRAX – fragile X chromosome syndrome<\/span>\n <\/span>\n <\/span>\n <\/span>\n <\/div>\n\n <\/section>\n\n\n\n
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The most common cause of genetically determined intellectual disability. <\/p>\n<\/h3>\n

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Are you interested in the cost of FRAX genetic testing?
\nCheck out the price list or contact our hotline!<\/p>\n<\/h3>\n

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About FRAX<\/p>\n<\/h3>\n

Fragile X syndrome (FRAX) is associated with the occurrence of a dynamic mutation in the FMR1 gene, which results in inhibition of its expression and consequently lack of FMRP protein synthesis. FMRP protein activity is particularly important for the process of synaptic plasticity. Its deficiency leads to abnormal brain development, memory and learning problems, attention deficit disorders, hyperactivity, cognitive impairment and autism spectrum disorders. Fragile X chromosome syndrome can also cause premature expiration of ovarian function, leading to infertility in women.<\/p>\n<\/span>\n <\/div>\n <\/div>\n\n <\/div>\n<\/section>\n\n\n\n

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\n FAQ<\/span>\n

Frequently asked questions
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\n What is broken X chromosome syndrome? <\/span>\n \"\"\n <\/div>\n

Fragile X Syndrome<\/em> (FRAX) is a genetic disorder and is the most common familial form of intellectual disability. It occurs with a frequency of 1:4,000 – 1:6,000 male births and is caused by a mutation in the FMR1<\/em> gene located on the X chromosome<\/strong>. The protein encoded by this gene – FMRP – plays a very important role in the development of synapses, or connections between neurons. Its absence therefore impairs the maturation of nerve cells, which in the patient manifests itself in cognitive impair <\/strong>ment (mild to severe intellectual disability) and autism spectrum disorders <\/strong>. In addition, people affected by broken X chromosome syndrome can be observed:<\/p>\n

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  • protruding ears<\/li>\n
  • prominent forehead<\/li>\n
  • narrow longitudinal face<\/li>\n
  • excessive mobility in the interphalangeal joints<\/li>\n
  • enlargement of the testicles (in men after puberty)<\/li>\n
  • flat feet<\/li>\n
  • disorders of muscle tone<\/li>\n<\/ul>\n<\/div>\n <\/div>\n
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    \n Why is brittle X chromosome syndrome much more common in boys than in girls?<\/span>\n \"\"\n <\/div>\n

    The higher prevalence of FRAX syndrome in boys than in girls is related to the location of the FMR1 gene on the X chromosome. As is well known, women each have two X chromosomes in their karyotype (46, XX), while men have one X chromosome and one Y chromosome (46, XY). In a woman, therefore, there is always one normal X chromosome left, with the protein-coding FMR1 <\/em>gene correctly . <\/em>Therefore, in female individuals, symptoms of the syndrome are less frequent and milder. Men, on the other hand, do not have a second X chromosome with a normal copy of the gene<\/strong>, so the disease will manifest itself in them more often and be characterized by a more severe course.<\/p>\n<\/div>\n <\/div>\n

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    \n How much does a FRAX study cost?<\/span>\n \"\"\n <\/div>\n

    The cost of the genetic test for broken X chromosome syndrome is \u00a3350. <\/strong><\/p>\n<\/div>\n <\/div>\n

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    \n What is the reason for FRAX? <\/span>\n \"\"\n <\/div>\n

    The cause of FRAX syndrome is the presence of a dynamic mutation in the FMR1<\/em> gene, which inhibits the expression of this gene and results in a lack of FMRP protein for nerve cell maturation and synapse plasticity.<\/p>\n<\/div>\n <\/div>\n

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    \n Is broken X chromosome syndrome hereditary?<\/span>\n \"\"\n <\/div>\n

    Yes, broken X chromosome syndrome is an inherited disease and is inherited in a dominant X chromosome-coupled<\/strong> manner. In practice, this type of inheritance means that a heterozygous sick mother passes the defective gene with a 50% probability to both her sons and daughters, while a sick father passes the defective gene to all his daughters, but no son.<\/p>\n<\/div>\n <\/div>\n

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    \n Who in particular should get tested?<\/span>\n \"\"\n <\/div>\n

    Genetic testing is particularly indicated for children who have:<\/p>\n