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Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. ... skeletal abnormalities (especially of the hands ...
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature. [1]
Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans, these only occur with chromosomes 13, 14, 15, 21, and 22. Rings: A portion of a chromosome has broken off and formed a circle or ring. This happens with or without the loss of genetic material.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Here's what bacterial meningitis is, how it's different from viral and other types of meningitis, and what treatment can be expected.
Polysomy of Chromosome 13 has been observed in the Flor strains of the yeast species Saccharomyces cerevisiae. Chromosome 13 contains loci, specifically the ADH2 and ADH3 loci, which encode for the isozymes of alcohol dehydrogenase. These isozymes play a primary role in the biological aging of wines via ethanol oxidative utilization. [47]