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What are some unique aspects of fragile X syndrome?
The phenomenon of an expanding trinucleotide repeat in successive generations is called anticipation. Another unique aspect of fragile X syndrome is that mosaicism is present in 15-20% those affected by the condition
What are the teaching techniques for a child with Down syndrome?
Be patient and repeat yourself! Don't treat them like they are stupid.
Fragile X syndrome?
DefinitionFragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.Alternative NamesMartin-Bell syndrome; Marker X syndromeCauses, incidence, and risk factorsFragile X syndrome is caused by a change in the FMR1 gene. A small section of the gene code (three letters only -- CGG) is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem.Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it.Fragile X syndrome can be a cause of autism or related disorders, although not all children with fragile X syndrome have these conditions.SymptomsBehavior problems associated with fragile X syndrome include: Delay in crawling, walking, or twistingHand clapping or hand bitingHyperactive or impulsive behaviorMental retardationSpeech and language delayTendency to avoid eye contactPhysical signs may include:Flat feetFlexible joins and low muscle toneLarge body sizeLarge forehead or ears with a prominent jawLong faceSoft skinSome of these problems are present at birth, while others may not develop until after puberty.Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.Signs and testsThe person will have a family history of Fragile X syndrome (especially a male relative).There are very few outward signs of Fragile X syndrome in babies. Some signs may include:Large head circumference in babiesMental retardationOversized testes (macro-orchidism) in males who have reached pubertySubtle differences in facial characteristicsIn females, excess shyness may be the only sign of the problem.A genetic test called polymerase chain reaction (PCR) is used to diagnose this disease. This test looks for a mutation (called a triplet repeat) in the FMR1 gene.In the past, a specific type of chromosome analysis was done. Such testing may still be available.TreatmentThere is no specific treatment for Fragile X syndrome. Instead, training and education help affected children function at as high a level as possible. Because the condition is not rare, educational approaches have been developed and tested.Support GroupsNational Fragile X Foundation -- www.nfxf.orgExpectations (prognosis)The outcome depends on the extent of intellectual impairment that is present as well as emotional and social skills.ComplicationsComplications vary depending on the type and severity of symptoms.Recurrent infections in childrenSeizure disorderCalling your health care providerCall your health care provider if you suspect Fragile X syndrome in a child with mental retardation. Genetic counseling is recommended to help families understand the condition, and to understand the complex nature of DNA testing in Fragile X.PreventionGenetic counseling may help both existing and prospective parents with a family history of Fragile X syndrome, or a family history of other symptoms such as tremor. Genetic testing can help determine the level of risk in these families.Accurate diagnosis is important, because other family members can inherit Fragile X syndrome or other problems related to an increased number of repeats in FMR1.ReferencesWise PH. Developmental disabilities and chronic illness. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 38.
Why do you consider DNA unique?
because DNA is basically a code which is different for every living creature on earth. you get your DNA by taking a sample from your mother and a sample from your father then mixing them together....if you have 3(for example)brothers or sisters than you must repeat this step 3 times and the mixed up code will be different for each offspring there is.(in this case 3)
What are the uses of Edison's Automatic Repeater?
TO repeat and repeat... TO repeat and repeat... TO repeat and repeat...
How else is the carpal tunnel syndrome disease known?
It is known as a repetitive stress injury, as it most commonly occurs in individuals who engage in motions that require the hands to repeat the same movements over and over again.
What does MEREPEAT represent?
Repeat after me
What is the transmission of physical qualities you receive from your parents and pass on to your offspring and the law by which living things tend to repeat chracteristics from one generation to the n?
The transmission of physical qualities from parents to offspring is called heredity. This process follows the principle of genetics, specifically Mendelian laws, where characteristics are passed down through the transmission of genes from one generation to the next.
How does a cat train its young?
A mother cat will train its young by doing normal cat like things such as, catching prew and eating it, playing and walking, to pouncing and playing! The kittens simmply repeat what the mother cat has done or is doing.
How do you make fur-by speak English?
Speak the English language. Repeat. and repeat. and repeat. and repeat....
What is the future tense of repeat?
The future tense of repeat is will repeat.
If your mother is homozygous at D1S80 with a repeat of 200 base pairs and your father is homozygous at D1S80 with a repeat length of 400 pairs what will the length of your fragments be?
You inherit two alleles, one maternal and one paternal. Because both parents are homozygous, each only has one variation to pass down. This means that any offspring will be heterozygous and have one allele with a repeat of 200base pairs and one with 400bp.
