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Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by … Fragile X syndrome is the most common form of inherited intellectual … in all racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in … A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate intellectual …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … Hereditary, X Chromosome, Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s … Fragile X syndrome is a hereditary disorder affecting mostly …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Chromosome, Mutation, Sex Chromosome, Sex Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … Humans and most other mammals have two sex chromosomes (X and Y) that in combination determine the sex of an individual. Females have two X chromosomes in their cells, while males have one X and one …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… X-Linked … X-linked, as related to genetics, refers to characteristics … or traits that are influenced by genes on the X chromosome. … Chromosome, Mutation, Sex Chromosome, Sex Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … X-linked, as related to genetics, refers to characteristics …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… medical student from Cameroon, collected images on Fragile X syndrome from physicians around the world and assessed the data for the atlas. Fragile X is a genetic condition that causes a range of … Turner Syndrome, Fragile X, Cornelia de Lange syndrome, Atlas of Human …
Staff
Joannella Morales is a program director in NHGRI's Division of Genomic Medicine.
… Genetics at Baylor College of Medicine, where she studied Fragile X Syndrome. She received her B.S. in Biology from the …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta (OI) causes bones to be fragile and easily broken and is also responsible for other … and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in … hearing loss that progresses after puberty may be present. X-rays are also used to diagnose OI. X-ray findings include …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… to cope,” said Dr. McGuire. “But the B cells are too fragile due to their limited energy, so they are unable to …
Event
On April 25, 2024, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… and writing. Body image, cancer, genetics and our fragile democracy are her narratives. She exhibits widely in …