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...
59 KB (6,790 words) - 23:49, 7 July 2024
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile...
12 KB (1,303 words) - 12:29, 24 September 2022
FMR1 (redirect from Fragile X mental retardation 1)
female reproductive function. Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's...
27 KB (3,455 words) - 12:19, 13 May 2024
Metadoxine (section Fragile X syndrome)
studies of metadoxine in relation to human exposure, Alcobra said. Fragile X syndrome (FXS) is a genetic disorder that is the most common single gene cause...
18 KB (1,907 words) - 20:36, 11 March 2024
syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing an X...
78 KB (9,205 words) - 08:56, 11 June 2024
Repeated sequence (DNA) (section Fragile X syndrome)
resulting in neurodegeneration. Fragile X syndrome is caused by the expansion of the DNA sequence CCG in the FMR1 gene on the X chromosome. This gene produces...
31 KB (3,686 words) - 18:49, 6 May 2024
these diseases demonstrated this relationship. In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG...
61 KB (7,973 words) - 04:54, 27 May 2024
pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. If one child has Fragile X, there is...
70 KB (7,922 words) - 19:33, 26 June 2024
Gamma wave (section Fragile X syndrome)
pathology is unknown. Hypersensitivity and memory deficits due to Fragile X syndrome may be linked to gamma rhythm abnormalities in the sensory cortex...
30 KB (3,476 words) - 17:57, 26 March 2024
Moss, J. (December 2021). "Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence". Journal of...
17 KB (1,194 words) - 06:44, 8 July 2024
term used to describe the anomalous pattern of inheritance found in fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation...
4 KB (487 words) - 20:05, 27 October 2023
Foster–Kennedy syndrome Fountain syndrome Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Franceschetti–Klein syndrome Frank–ter...
41 KB (4,052 words) - 14:58, 17 June 2024
Clinically, the most important rare fragile site is FRAXA in the FMR1 gene, which is associated with the fragile X syndrome, the most common cause of hereditary...
21 KB (2,523 words) - 16:24, 3 December 2023
large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual...
18 KB (1,858 words) - 03:18, 6 June 2024
David L. Nelson (section Fragile X syndrome)
disorders. Their findings in FMR1 explained the unusual inheritance in Fragile X syndrome and provided the principles for all subsequent unstable repeat disorders...
33 KB (2,388 words) - 13:29, 4 January 2024
Macrocephaly (redirect from Learman syndrome)
known as basal cell nevus syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration) such as Alexander...
18 KB (1,722 words) - 07:10, 15 April 2024
trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to...
26 KB (2,709 words) - 18:38, 5 July 2024
development include genetic disorders such as Down syndrome, Fragile X syndrome and GLUT1 Deficiency Syndrome; childhood infections such as meningitis or encephalitis...
9 KB (1,038 words) - 18:36, 7 June 2024
neurodevelopmental disorders through a mechanistic understanding of fragile X syndrome and Williams syndrome". Current Opinion in Neurology (Review). 25 (2): 112–24...
52 KB (5,772 words) - 23:50, 7 July 2024
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
151 KB (15,158 words) - 10:47, 8 July 2024
researching the causes of and treatments for autism spectrum disorders, fragile X syndrome, and other neurodevelopmental disorders. The director of the MIND...
11 KB (1,206 words) - 05:29, 7 June 2024
syndrome Turner syndrome Noonan syndrome Patau syndrome DiGeorge syndrome Cri du chat syndrome Edwards syndrome Fragile X syndrome Okamoto syndrome It...
4 KB (283 words) - 00:15, 31 January 2023
rickets: X-linked hypophosphatemia Rett syndrome (95% of cases are due to sporadic mutations) Fragile-X Syndrome Most cases of Alport syndrome Incontinentia...
8 KB (997 words) - 04:04, 20 June 2024
Beckwith–Wiedemann syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel...
4 KB (329 words) - 00:36, 10 January 2024
a character in the Bucky O'Hare fictional universe FraX, an abbreviation for Fragile X Syndrome or the associated gene FRAX, a tool for assessing risk...
686 bytes (106 words) - 23:24, 10 September 2023
Apert syndrome Crouzon syndrome Down syndrome Ehlers-Danlos Syndrome Friedreich's ataxia Fragile X syndrome Incontinentia pigmenti Marfan syndrome Sotos...
5 KB (384 words) - 14:51, 17 March 2024
Cognitive genomics (section Fragile-X syndrome)
have yet to be discovered. Fragile-X syndrome is caused by a mutation of the FRAXA gene located in the X chromosome. The syndrome is marked by intellectual...
18 KB (1,995 words) - 17:37, 30 March 2024
congenitally thin and fragile tissue Enlarged arteries A 50% risk of colonic perforation exists in vascular Ehlers–Danlos syndrome. Pregnancy increases...
109 KB (11,311 words) - 00:52, 19 June 2024
on 2013-12-22. Retrieved 2017-11-01. "Fragile X Syndrome - Symptoms, Diagnosis, Treatment of Fragile X Syndrome". NY Times Health Information. Archived...
30 KB (3,662 words) - 00:18, 25 June 2024
not cause disease in the person with the excess number of repeats. Fragile X syndrome, a trinucleotide repeat disorder, is a condition in which premutations...
2 KB (177 words) - 20:11, 9 December 2021