Search results
Results From The WOW.Com Content Network
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
The terms "partial monosomy" and "partial trisomy" are used to describe an imbalance of genetic material caused by loss or gain of part of a chromosome. In particular, these terms would be used in the situation of an unbalanced translocation , where an individual carries a derivative chromosome formed through the breakage and fusion of two ...
Rather than having monosomy, or only one copy, the majority of aneuploid people have trisomy, or three copies of one chromosome. [ citation needed ] An example of trisomy in humans is Down syndrome , which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called "trisomy 21".
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.
Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21 Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]
The following is a partial list of genes on human chromosome 21. For complete list, see the link in the infobox at the top of the article. ... (partial monosomy 21 ...
A common example is Down syndrome, which is caused by possessing three copies of chromosome 21 instead of the usual two. [9] Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. [11] Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies.
[1] [2] Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. Micrographic karyogram of human male using Giemsa staining Schematic karyogram demonstrating the basic knowledge needed to read a karyotype