A genetic deletion is a geneticaberration in which part of a chromosome is missing. This causes several serious genetic diseases. This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... Aberration (Latin ab, from or away + errare, to wander), a deviation or wandering, especially used in the figurative sense as: In ethics, a deviation from the truth. ... Figure 1: Chromosome. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ...
One example of genetic deletions is cri du chat syndrome. 5p- karyotype Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. ...
A deletion including the q12 band (arrow) of chromosome 15 is contributed by the father and observed in about 70 percent of the subjects with Prader-Willi syndrome.
The imprinted 15q11-q13 chromosome region includes genetic material (DNA) that is normally active (paternally expressed) on the father's chromosome 15 and inactive on the chromosome 15 inherited from the mother.
Genetic testing is required to identify maternal disomy 15 or UPD using DNA obtained from the parents and the person with Prader-Willi syndrome.
Chromosome 4 Ring is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring.
However, chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of certain chromosomal abnormalities in one of the parents, such as Chromosome 4 Ring, potential mosaicism, or a "balanced translocation" involving chromosome 4.
Although the size and location of the 4p deletion vary from case to case, it is believed that deletion of band 4p16.3 is the critical region leading to characteristic features of the disorder.
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