agileは一日一時間まで

＜p＞This book describes Fragile X Syndrome, Diagnosis and Treatment and Related Diseases＜br /＞ Fragile X syndrome (FXS) is a genetic disorder, the second most frequent cause of genetically linked mental deficiencies, after trisomy 21.＜br /＞ A genetic disorder indicates that there are alterations to the person’s genes.＜br /＞ Fragile X syndrome (also termed Martin-Bell syndrome or Marker X syndrome) is the most frequent cause of inherited mental retardation, intellectual disability and autism.＜br /＞ The conservative estimates are that fragile X syndrome involves about 1 in 2500-4000 males and 1 in 7000-8000 females.＜br /＞ The incidence of female carrier status has been evaluated to be as high as 1 in 130-250 population.＜br /＞ The incidence of male carrier status is evaluated to be 1 in 250-800 population＜br /＞ FXS is caused by alterations in the fragile X mental retardation 1 (FMR1) gene.＜br /＞ The FMR1 gene normally makes a protein termed fragile X mental retardation protein (FMRP).＜br /＞ FMRP is required for normal brain development.＜br /＞ People who have FXS do not produce this protein.＜br /＞ People who have other fragile X-linked disorders have alterations in their FMR1 gene but normally produce some of the protein.＜br /＞ FXS involves both males and females.＜br /＞ The females often have milder symptoms than males.＜br /＞ The precise number of people who have FXS is not known but it has been evaluated that about 1.4 per 10,000 males and 0.9 per 10,000 females have FXS.＜br /＞ The gene for Fragile X is present on the X chromosome.＜br /＞ Since both males (XY) and females (XX) have at least one X chromosome, both can transmit the mutated gene to their children.＜br /＞ A father with the altered gene for Fragile X on his X chromosome will transmit that gene on only to his daughters.＜br /＞ To his sons he will pass on a Y chromosome, which does not transmit Fragile X syndrome.＜br /＞ A father with the altered gene on his X chromosome and a mother with normal X chromosomes can have daughters with the altered gene for FXS while their sons would not have the mutated gene.＜br /＞ A father can transmit the pre-mutation form of the FMR1 gene to his daughters but not the full mutation.＜br /＞ Even if the father himself has a full mutation of this gene, it seems that sperm can transmit only the pre-mutation.＜br /＞ Mothers transmit only X chromosomes to their children, so if a mother has the altered gene for Fragile X, she can transmit that gene to either her sons or her daughters.＜br /＞ If a mother has the mutated gene on one X chromosome and has one normal X chromosome, and the father has no mutations, all the children have a 50-50 possibility of inheriting the mutated gene.＜br /＞ These 50-50 possibility apply for each child the parents have.＜br /＞ Having one child with the FMR1 mutation does not raise or reduce the possibilities of having another child with the mutated FMR1 gene.＜br /＞ This also applies to the severity of the symptoms.＜br /＞ Having one child with mild symptoms does not indicate that the other children will have severe symptoms, and having a child with severe symptoms does not indicate that the other children will have mild symptoms.＜br /＞ Symptoms＜br /＞ Signs that a child might have FXS are:＜/p＞ ＜ol＞ ＜li＞Developmental delays (not sitting, walking, or talking at the same time as other children the same age);＜/li＞ ＜li＞Learning disabilities (trouble learning new skills); and＜/li＞ ＜li＞Social and behavior disorders＜br /＞ Patients with fragile X syndrome manifest with problems in these:＜/li＞ ＜li＞Developmental＜/li＞ ＜li＞Cognitive＜/li＞ ＜li＞Neuropsychological＜/li＞ ＜li＞Musculoskeletal＜/li＞ ＜li＞Feeding＜/li＞ ＜li＞Toilet training＜/li＞ ＜li＞Sleep＜/li＞ ＜li＞Recurrent medical disorders＜br /＞ Fragile X syndrome can be diagnosed by testing a person’s DNA with a blood test.＜br /＞ There is no cure for FXS＜br /＞ Treatment services can be therapy to learn to talk, walk, and interact with others and medicine to regulate symptoms.＜/li＞ ＜/ol＞ ＜p＞TABLE OF CONTENT＜br /＞ Introduction＜br /＞ Chapter 1 Fragile X Syndrome＜br /＞ Chapter 2 Causes＜br /＞ Chapter 3 Symptoms＜br /＞ Chapter 4 Diagnosis＜br /＞ Chapter 5 Treatment＜br /＞ Chapter 6 Prognosis＜br /＞ Chapter 7 Down’s Syndrome＜br /＞ Chapter 8 G6PD Deficiency＜br /＞ Epilogue＜/p＞画面が切り替わりますので、しばらくお待ち下さい。

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