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Rett Syndrome (RS) is a genetic developmental disorder which occurs almost exclusively in females. It was origionally noted by Dr. Andreas Rett in 1966, after whom the disorder was named. RS appears in an estimated 1 out of every 15,000 female births around the world today, regardless of race and seemingly unrelated to any inheritable factor.
RS is thought to be caused by mutations in a gene transmitted as an X-linked dominance trait. It is the first human disease that has been found which is caused by defects in a protein. The gene known as methyl-CpG-binding protein 2 (or MeCP2), contains instructions to make that protein, which is vital during the brain's developmental stages. The protein directs the production of certain other proteins by telling their genes when to stop producing. This needs to occur at critical times during development, or the genes remain active at inappropriate times and affect the nerve cells.
Because so few male cases of RS or RS-like symptoms have been recorded, researchers hypothesize that the defect is on the X chromosome. As girls have two X chromosomes, and only one is active in any given cell, a girl with a defective MeCP2 gene would only have half of her cells effected. Some of her brain cells would use the healthy copy and function normally.
However, because boys have only one X-chromosome to draw their genes from, any mutation is far more likely to be fatal, because none of their cells will receive the protein MeCP2. They lack the back-up copy that ensures the healthy development of a certain amount of cells. Researchers believe that the vast majority of males with this condition die shortly after birth instead of living several decades as many females do.
What else can I help you with?
What are alternative names for Patau syndrome?
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
Does Missy Marlowe have Turner's syndrome?
Yes and she is also the spokesperson for the Turner Syndrome Society.
What is Restless Leg Syndrome's medical name?
Restless Leg Syndrome (RLS) is also known in the medical community as Ekbom Syndrome and Wittmaack-Ekbom Syndrome. Anxietas Tiblarum and Anxietas Tibialis are also medical names for Restless Leg Syndrome.
What are some alternative names for Cri du chat syndrome?
Cri du chat syndrome is a rare disorder which affects persons missing a part of chromosome 5. Some other names are cat cry syndrome, 5P deletion syndrome, and monosomy 5P.
Which of the following are example(s) of trisomy---Turner Syndrome Down's Syndrome or Klinefelter's Syndrome?
Trisomy means having three copies of a chromosomes. Turner's syndrome is NOT an example of trisomy. Someone with Turner's syndrome has only one X chromosome. Down's syndrome IS an example of trisomy. Someone with Down's syndrome has 3 copies of chromosome 21. Klinefelter's syndrome is a tricky one. On one hand, it would be considered trisomy because they have 3 sex chromosomes. However, they are not all the SAME sex chromosomes. Someone with Klinefelter's has 2 X chromosomes and one Y chromosome.
What rhetts last name in Gone With the Wind?
Rhett Butler.
In Gone With the Wind What Rhetts occupaton during the war?
He's a Blockade runner
What is syndactyly a symptom of?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
Which syndrome is the complete opposite of Lima syndrome?
Stockholm syndrome.
What other conditions could an infant with syndactyly have?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
Is xxxy syndrome barr-shaver-carr syndrome?
XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
What is the medical term meaning the result of prolonged exposure to high levels of cortisol?
Cushing's Syndrome
What is a chromosomal disorder that could result from nondisjunction?
Disorders, such as Down's Syndrome, are caused by nondisjunction.
Klinefelter syndrome is what?
what is kinefelter syndrome?
Is there such a syndrome as 9p syndrome?
yes there is.
Is Angelman syndrome the same as Down syndrome?
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
By what other names is fragile X syndrome known?
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
