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Rett syndrome is a neurological and neurodevelopmental disorder that is the result of a chromosomal abnormality. It is caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene in many of the cases. Almost all of those alive with Rett Syndrome are female; males who have the genetic mutation do not have a second X chromosome to compensate for the defective gene so they usually die before birth or shortly thereafter. The males that survive almost always have an extra X chromosome (XXY).
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What effects will Rett Syndrome have on a child?
One of every 10,000 to 15,000 infant girls will develop Rett syndrome. It affects all racial and ethnic groups worldwide. Rett syndrome is rarely seen in boys.The chances of a family having a second child with Rett syndrome are less than one percent.Why Does Rett Syndrome Mostly Affect Girls and Not Boys?Girls have two X chromosomes in every cell. If they have Rett syndrome, some of the cells will use the defective gene. Other cells will use the healthy genes which will help to make up for the cells using the defective gene. However, boys only have one X chromosome in every cell. They lack the extra X chromosome that can protect their bodies from being completely overcome by the disorder. Therefore boys with the cell mutation that causes Rett syndrome often die before or shortly after birth
What are facts about Rett Syndrome?
Rett syndrome is a rare genetic disorder that primarily affects girls. It leads to severe impairments in cognitive, motor, and communication skills. Symptoms typically appear between 6-18 months of age and can include loss of purposeful hand skills, seizures, and breathing abnormalities. Treatment focuses on symptom management and supportive therapies.
Does Klinefelter's syndrome only occur in boys?
yes.
Do only girls get turner syndrome?
Yes, only women are born with the TS.
Can you have apnea while awake?
Yes its very common to expierence sleep apnea while awake. but consult a doctor to be on the safe side
How do you get barth syndrome?
Barth's Syndrome is not something you get from a virus or a bacteria. It is genetic, on the X chromozome. It means that a women is mostly only a carrier, and when a carrier woman marries a amn, 50% of their boys will have Barth's Syndrome and 50% of their girls will be carriers. All the other boys and girls will be healthy. Have good health, harhanegev@gmail.com
Can boys get turner syndrome?
Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. The effects of the condition vary widely among girls with Turner syndrome. It all depends on how many of the body's cells are affected by the changes to the X chromosome.
What are the similarities and differences between Down syndrome and Turner syndrome?
Down syndrome is caused by an extra or part of an extra 21st chromosome while Turner syndrome is caused by an absence in one or part of the sex(X) chromosome.Down syndrome can occur in both male and femalewhile Turner syndrome only occurs in female.People with Down syndrome tend to have a lower than average cognitive ability.Both Down syndrome and Turner syndrome are at higher risk for having medical conditions such as heart problems.
What are the possible genotypes of the parents of a child with Rett Syndrome?
The parents have normal sex chromosome genotypes, XX and XY. The chromosomal error that causes Klinefelter's syndrome occurs during the formation of either of the parent's gametes during meiosis.
What is Rhetts syndrome?
Rett syndrome is a rare genetic neurological disorder that primarily affects girls. It causes severe impairments in cognitive, physical, and language development, leading to problems with motor skills and communication. Symptoms typically appear between 6 months and 3 years of age.
What genotypes cause Klinefelter's syndrome?
The only genotype to cause Klinefelter's syndrome is XXY.
Does Williams syndrome occur in mild form?
William's Syndrome is commonly caused by micro deletions within the 7q11.23 chromosome, it is possible that a milder phenotype is evident through a very small deletion within a region that only spans a portion of the critical region.
