Doctor insights on:
How Long Does Someone With Triple X Syndrome Usually Live
Depends on symptoms: Trisomy X syndrome can range from mild to severe, the life style changes would depend upon its severity. Pl see attached link forother details about the condition from the Mayo clinic. Good luck! Read more
Chromosomal defect: Klinefelter syndrome - a male with an extra x chromosome occurs when chromosomes fail to separate very early in development. So it is caused by a developmental issue and is not inherited. There is nothing that suggests a trisomy x woman is more likely to have a klinefelter child, but she has the same risk as other women. A geneticist can give you more information about potential risks. Read moreSee 1 more doctor answer
Defective chromosome: Each person has 23 pair of chromosomes. Males have xy and females xx. Some persons have a defective x with a portion that is missing. In females the other x compensates and they have no clinical problems. In males the defective x can result in retardation and/or autism. Some with defect can be normal but transfer problems to their sons. Read more
Chromosome defect: Patients with fragile x have a defective x chromosome. There are several variants, and not all cells may be affected. It is full disease only in males, but females can be carriers. It is a genetic disorder, but it often just occurs without warning. Affected boys can vary from normal to severe retardation and autism. There is no cure. Read more
Gene mutation: Fragile x syndrome is due to a mutation within the fmr1 gene on x chromosome. Part of the gene gets repeated too many times. It is the most common genetic cause of intellectual disability. Please see: http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002633/ and http://www. Fragilex. Org/ for more information. Read more
Not preventable: While there is no way to prevent fragile X disorder, treatment with folic acid, a vitamin can be helpful with the behaviours if necessary. Behavioral therapy, applied behavioral analysis, A variety of medications are available for symptoms. You should consult a specialist working with children with Fragile X. Read moreSee 1 more doctor answer
Genetic Testing: Many infants and children with fragile x have no distinct physical features. As teens characteristics can develop such as a longer face/jaw and larger, more noticeable ears. Most do not grow as tall as their peers, tend to have hyperflexible joints. Many people with fragile x have impaired intellectual functioning. Definitive diagnosis is made with genetic testing (usually a blood test). Read moreSee 1 more doctor answer
Find experts in your: Area by using the nfxf contact form at www. Fragilex. Org/foundation/contact/. A local Developmental/Behavioral Pediatrician & your state's Early Interventon Program if the child is < 3 years old or your public school district if he's 3 or older can evaluate him/her for ASD, ADHD + cognitive, adaptive, motor & behavioral issues & team with you to develop an individualized treatment plan. Read more
Normal: These women appear no different from any other and have no special problems. Read more
Genetic problem: Fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Http://ghr. Nlm. Nih. Gov/condition/fragile-x-syndrome. Read more
Mental retardation: Mental retardation, autistic behavior, large testicles, long face, and large ears. Mainly seen in boys (but inherited from mother). Diagnosed by a blood test. There is an expanded dna segment called a trinucleotide repeat. This expanded dna segment is located on the x chromosome. Read moreSee 2 more doctor answers
See below:: The most noticeable and consistent effect of fragile x is on intelligence.>80 percent of males have an IQ of 75 or less. Females may have mental impairment, learning disabilities, or a normal iq. Associated problems: sensation, emotion, and behavior. Currently there is no definitive, single treatment for fragile x. Appropriate education, behavioral or physical therapy, and medication can help. Read more
Termination of pregn: Termination of pregnancy with fragile x syndrome, I assume it was diagnosed with an amniocentesis and chromosomal analysis would be an option to consider. The boys with this diagnosis have syndromic autism. Although they do not have health issues, they have problems with speech, communication and developmental delay. The care of a child with autism is about $2 millions for his life time, . Read more
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