Definitions for fragile x syndrome
frag·ile x syn·drome

WiktionaryRate this definition:0.0 / 0 votes

1. fragile X syndromenoun

   A particular, genetic syndrome, caused by the excessive repetition of a particular trinucleotide.

WikipediaRate this definition:0.0 / 0 votes

1. Fragile X syndrome

   Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.This disorder and finding of Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome. This results in silencing (methylation) of this part of the gene and a deficiency of the resultant protein (FMRP), which is required for the normal development of connections between neurons. Diagnosis requires genetic testing to determine the number of CGG repeats in the FMR1 gene. Normally, there are between 5 and 40 repeats; fragile X syndrome occurs with more than 200. A premutation is said to be present when the gene has between 55 and 200 repeats; women with a premutation have an increased risk of having an affected child. Testing for premutation carriers may allow for genetic counseling.There is no cure. Early intervention is recommended, as it provides the most opportunity for developing a full range of skills. These interventions may include special education, speech therapy, physical therapy, or behavioral therapy. Medications may be used to treat associated seizures, mood problems, aggressive behavior, or ADHD. Fragile X syndrome is estimated to occur in 1.4 per 10,000 males and 0.9 per 10,000 females.

WikidataRate this definition:0.0 / 0 votes

1. Fragile X syndrome

   Fragile X syndrome, Martin–Bell syndrome, or Escalante's syndrome, is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe as well as physical characteristics such as an elongated face, large or protruding ears, and large testes, and behavioral characteristics such as stereotypic movements, and social anxiety. Fragile X syndrome is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 gene on the X chromosome, resulting in a failure to express the fragile X mental retardation protein, which is required for normal neural development. Depending on the length of the CGG repeat, an allele may be classified as normal, a premutation, or full mutation. A definitive diagnosis of fragile X syndrome is made through genetic testing to determine the number of CGG repeats. Testing for premutation carriers can also be carried out to allow for genetic counseling. The first complete DNA sequence of the repeat expansion in someone with the full mutation was generated by scientists in 2012 using SMRT sequencing.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Fragile X Syndrome

   A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. MENTAL RETARDATION occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)

How to pronounce fragile x syndrome?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say fragile x syndrome in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of fragile x syndrome in Chaldean Numerology is: 5

2. Pythagorean Numerology

   The numerical value of fragile x syndrome in Pythagorean Numerology is: 6

Examples of fragile x syndrome in a Sentence

1. Jayne Dixon Weber:

   When the kids are young, Randi Hagerman’re kind of hypersensitive to what other people think, i ’m past that now, and I ’m thankful that I am. What’s up next ? Medications helpful in treating Fragile X syndrome are a portal to understanding and developing treatments for other intellectual disabilities as well, including autism, Randi Hagerman said. As for Ian, Jayne Dixon Weber said if he continues working at the food store and stays active within his community, he will continue to grow and learn. Despite his developmental delays, Ian’s energy and attitude work in his favor.

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Fragile_X_Syndrome
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Fragile_X_Syndrome
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=fragile x syndrome