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Archive
… 1959: Chromosome Abnormalities Identified … Archive …
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. …
Archive
… Scientists find that chromosomal abnormalities are associated with aging and cancer … Archive …
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 … cohort. For each, researchers calculated a normalized chromosome denominator quality (NCDQ), which measures the …
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 …
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 determined which genes on the X chromosome are responsible for most signs and symptoms of …
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 … Locus specific probes bind to a particular region of a chromosome. This type of probe is useful when scientists have …
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 …
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 in … or true fetal mosaicism, maternal autosomal or sex chromosome aneuploidies, and maternal copy number variants …
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, … Newborn Screening, Cost Of Sequencing A Human Genome, X Chromosome, Y Chromosome … Fact sheets explaining complex …