Fragilt x syndrom Treff i utvalgte kilder: [Skjul boksen]
  1. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/884/differentials
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    ... child's potential. Down's syndrome (trisomy 21) Fragile X syndrome History Exam 1st investigation Other investigations mild, moderate, ... child's potential. Down's syndrome (trisomy 21) Fragile X syndrome History Exam 1st investigation Other investigations mild, moderate, ...
  2. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/884/differentials
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    ... a child's potential. Down syndrome (trisomy 21) Fragile X syndrome History Exam 1st investigation Other investigations mild, moderate, ... a child's potential. Down syndrome (trisomy 21) Fragile X syndrome History Exam 1st investigation Other investigations mild, moderate, ...
  3. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1004/history-exam
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    ... s disease, and Sjogren syndrome. family history of fragile X syndrome Up to 28% of female fragile X permutation ...
  4. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1192/differentials
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    ... e.g., mental retardation, autism, Prader-Willi syndrome, fragile X syndrome) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Self-injury in ...
  5. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1004/history-exam
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    ... Crohn disease, and Sjogren syndrome. family history of fragile X syndrome Up to 28% of female fragile X permutation ...
  6. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/1192/differentials
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    ... e.g., mental retardation, autism, Prader-Willi syndrome, fragile X syndrome) SIGNS / SYMPTOMS INVESTIGATIONS SIGNS / SYMPTOMS Self-injury in ...
  7. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/884/pdf/884.pdf
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    ... associated with autism (e.g., Down's syndrome, fragile X syndrome, tuberous sclerosis, 15q11 and 16p11.2 deletion syndromes). ... macro-orchidism, and large ears are characteristic of fragile X syndrome. Strabismus may also be present. • Short stature, hypotonia, ...
  8. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-us/884/pdf/884.pdf
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    ... are associated with autism (e.g., Down syndrome, fragile X syndrome, tuberous sclerosis, 15q11 and 16p11.2 deletion syndromes). ... macro-orchidism, and large ears are characteristic of fragile X syndrome. Strabismus may also be present. • Short stature, hypotonia, ...
  9. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/1097/pdf/1097.pdf
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    ... occurs with fragile-X tremor-ataxia syndrome (FXTAS). Fragile X syndrome is the most common cause of male mental ... a grandson, rarely in a female with a fragile- X syndrome in a son, family history may not be ...
  10. bmj-bestpractice
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    https://bestpractice.bmj.com/topics/en-gb/379/pdf/379.pdf
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    ... chromosomal abnormalities and recognised genetic syndromes, such as fragile X syndrome, tuberous sclerosis, and Down's syndrome. Similarly, in ... in which ASD is found frequently (e.g., fragile X syndrome or tuberous sclerosis) need to be specifically excluded. [ ...
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