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Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… 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
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… … A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated … … A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… linked to one or more genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … Among the main goals of the Human Genome … one or more genes. Mapping also provides clues about which chromosome contains the gene and precisely where the gene …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
Educational Resources
A tandem repeat is a sequence of two or more DNA base pairs that is repeated in such a way that the repeats lie adjacent to each other on the chromosome.
… a way that the repeats lie adjacent to each other on the chromosome. … Base Pair, Chromosome, Deoxyribonucleic Acid (DNA), DNA Fingerprinting, … is repeated numerous times in a head-to-tail manner on a chromosome. Tandem repeats are generally present in …
Educational Resources
Meiosis is the formation of egg and sperm cells. In sexually reproducing organisms, body cells are diploid, meaning they contain two sets of chromosomes (one set from each parent).
… parent). … Meiosis, Sexually Reproduction, Cell Biology, Chromosome … Meiosis is a type of cell division in sexually …
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 …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… … Monosomy is the state of having a single copy of a chromosome pair instead of the usual two copies found in diploid cells. … Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri … … Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the …
Talking Glossary
An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation.
… Inversion … An inversion in a chromosome occurs when a segment breaks off and reattaches within the same chromosome, but in reverse orientation. … An inversion in a chromosome occurs when a segment breaks off and reattaches …
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 complete set of … in numerical order. A karyotype may be used to look for abnormalities in chromosome number or structure. … …