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Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
chromosome abnormalities can be numerical or structural. a numerical … instead of a pair. a structural abnormality means the chromosome's structure has been altered in one of several … is called a karyotype. the karyotype can help identify abnormalities in the structure or the number of chromosomes. …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by … condition in which there are three instances of a certain chromosome instead of the standard two. "extending our …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… down syndrome inherits all or part of an extra copy of chromosome 21. symptoms associated with the syndrome include …
Staff
Dr. Paul Liu is NHGRI's deputy scientific director and a senior investigator in NHGRI's Translational and Functional Genomics Branch. ​
… discovered that a cbfb-myh11 fusion gene is the product of chromosome 16 inversion, a common chromosome abnormality in human acute myeloid leukemia. using … year, leukemias are frequently associated with chromosome abnormalities such as translocations, inversions and …
Fact Sheets
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cell.
… may be used for understanding a variety of chromosomal abnormalities and other genetic mutations. … fish is useful, … reside on a person's chromosomes. when a probe binds to a chromosome, its fluorescent tag provides a way for …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… or swelling (lymphedema) of the hands and feet, skeletal abnormalities , heart defects and kidney problems. this … syndrome is a chromosomal condition related to the x chromosome . [ghr.nlm.nih.gov] researchers have not yet …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… revolutionized prenatal screening and diagnosis for fetal chromosome abnormalities . it is the largest and fastest growing assay …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… down syndrome is a chromosomal condition related to chromosome 21. it affects 1 in 800 to 1 in 1000 live born … syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a blood or skin sample to …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… in genomics research to a non-scientific audience. ​ … chromosome abnormalities , cloning, comparative genomics, …
Educational Resources
A karyotype is an individual's collection of chromosomes.
… collection of chromosomes . … karyotype, chromsomes, x chromosome , y chromosome … a karyotype is an individual's …