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代孕贵不贵_代孕哪家好_5号染色体q31.3微缺失综合征会遗传吗?常见癫痫发作有
来源:http://www.jiminjiushui.cn  日期:2021-10-22

代孕哪家好】「供卵代孕」「借腹生子是怎么弄」。

5号染色体q31.3微缺失综合征会遗传吗?常见癫痫发作有哪些?

  5q31.3Micro deletion syndrome is a disease characterized by serious late sluggish in words and sports skills.,Walk。

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Start from infancy,patient tension,Difficulties in feeding and difficulty breathing。

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Respiratory problems and difficulties in swallowing may endanger life。

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  5q31.3Micro-missing syndrome

  5q31.3The characteristics of micro-missing syndrome are unique facial features。

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Such functions include a narrow forehead,The eyes are large,Open mouth,Top high arch,Small chin and lack of facial expressions。

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Some of these features,For example, lips open,No expression,It is considered caused by tension reduction。

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  5q31.3Micro defective syndrome is often seen in epilepsy(epilepsy)pammon(Muscle twitching,Convulsions and stiff)。

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Many suffers from5q31.3Abnormal brain of micro-missing syndrome,Some of them are due to the reduction in myelin generation or myeloid delay maturation.。

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Myelin is a protective cover for protecting nerves and ensures rapid spread of nerve impulses.。

  5Chromosomeq31.3The incidence of micro-missing syndrome

  5q31.3Micro-missing syndrome is a very rare disease。At least eight individuals with this condition have been described in medical literature。

  

  5q31.3Micro-missing syndromepatient tension is lowLead toDifficulty breathing

  5Chromosomeq31.3Micro-default syndrome

  5q31.3Micro-missing syndrome is caused by chromosome changes,A small chromosome in each cell5been deleted。This deletion occursq31.3position dyeing body long arm(q)superior。The size range of deletion can range from several thousand to several millionDNABuild block(Base pair)。The deleted area usually contains at least three genes。One of these genespURALoss is considered to be most of the characteristics of the condition。

  Depend onpURAThe protein generated by the gene is calledpur-α(purα),A variety of effects in cells,Including the activity of genes(Gene transcription)And helpDNACopy(copy)。This protein is especially important for normal brain development.; It helps guide nerve cells(Neurons)Growth and split,And may participate in the formation or maturity of myelin。

  pURAA copy of a copy of the gene is considered to change the normal brain development and damage the function of neurons.,Lead to5q31.3Surgery of patients with micro-missing syndrome,Tension,Epilepsy and other neurological issues。Some studies have shown,Another loss of genes in the nearby gene increases the severity of signs and symptoms。How is the loss of other genes in the absence of missing areas5q31.3Micro defective syndrome development。

  

  5q31.3Micro defective syndromeEpilepsy

  5q31.3Is it genetic in a micro-missing syndrome?

  5q31.3Micro-default syndrome,This means that a genetically change copy of each cell is sufficient to cause the disease.。

  Condition is not hereditary,But by reproductive cells(Eggs and sperm)During the formation period or the lack of chromosome fragment in early birth of the fetus。Affected people usually have no family disorders。

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