Chromosome 3
Chromosome 3: One of the largest human chromosomes, comprising approximately 6.5% of the human genome. Chromosome 3 has between 1,100 and 1,500 genes of the estimated 30,000 to 40,000 genes in the human genome. Among the genes on chromosome 3 are the HGD gene for alkaptonuria, the BTD gene for biotinidase deficiency, the CPOX gene for hereditary coproporphyria, the MLH1 gene for hereditary nonpolyposis colorectal cancer (HNPCC), the ZNF9 gene for type 2 myotonic dystrophy, the TMIE gene for an autosomal recessive form of nonsyndromic deafness, and the BCCB gene for propionic acidemia.
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Chromosome 4p- syndrome: The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); […]
- Chromosome 5q- syndrome
Chromosome 5q- syndrome: A blood disorder due to the loss of part of the long (q) arm of chromosome 5 in myeloid (bone marrow) cells, causing refractory (treatment-resistant) anemia, and myelodysplastic syndrome that is generally associated with a good prognosis but on occasion may lead to acute myeloid leukemia (AML). The immune modulating lenalidomide (Revlimid) […]
- Chromosome band
Chromosome band: One of the transverse bands produced on chromosomes by differential staining techniques. Depending on the particular staining technique, the bands are alternating light and dark or fluorescent and nonfluorescent. Each human chromosome has a short arm (“p” for “petit”) and long arm (“q” for “queue”) separated by a centromere. The ends of the […]
- Chromosome banding
Chromosome banding: The treatment of chromosomes to reveal characteristic patterns of horizontal bands like bar codes. The banding patterns lend each chromosome a distinctive appearance so the 22 pairs of human nonsex chromosomes and the X and Y chromosomes can be identified and distinguished without ambiguity. Banding also permits the recognition of chromosome deletions (lost […]
- Chromosome complement
Chromosome complement: The whole set of chromosomes for a species. In humans, the normal chromosome complement consists of 46 chromosomes, including the 2 sex chromosomes. Also known as the karyotype.