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Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… caused by a deletion of a group of genes located on chromosome number 11. Babies born with WAGR syndrome often … Tumor-Aniridia-Gonadoblastoma-Mental Disability Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The … WAGR syndrome is deletion of a group of genes located on chromosome number 11 (11p13 - the "p13" refers to the …
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 …
Staff
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 … AJ, Rava RP. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma . Am J …
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. … 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
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).
… Meiosis, Sexually Reproduction, Cell Biology, Chromosome …
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 … a way that the repeats lie adjacent to each other on the chromosome. …
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 … 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.
… 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 within the same chromosome, but in reverse orientation. DNA may or may not be …
Educational Resources
Fact sheets explaining complex concepts 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 …