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Typically seen in zoology (but also discovered to a rare extent in human beings), a chimera is an animal that has two or more different populations of genetically distinct cells that originated in different zygotes; if the different cells emerged from the same zygote, it is called a mosaicism. Chimerism in human beings has very few (about 40) reported cases[citation needed].
Chimeras are formed from four parent cells (two fertilized eggs or early embryos fuse together) or from three parent cells (a fertilized egg is fused with an unfertilized egg or a fertilized egg is fused with an extra sperm). Each population of cells keeps its own character and the resulting animal is a mixture of tissues. An analogy is two jigsaw puzzles cut using an identical cutter, but with different pictures. A single puzzle can be made out of the mis-matched parts, but the completed puzzle will show parts of both pictures.
This condition is either inherited, or it is acquired through the infusion of allogeneic hematopoietic cells during transplantation or transfusion. In nonidentical twins, chimerism occurs by means of blood-vessel anastomoses. The likelihood of a child being a chimera is increased if the child is created via in vitro fertilization. Chimeras can often breed, but the fertility and type of offspring depends on which cell line gave rise to the ovaries or testes; intersexuality and hermaphroditism may result if one set of cells is genetically female and another genetically male.
Tetragametic chimerism is a less common cause of congenital chimerism. It occurs through the fertilization of two ova by two sperm, followed by the fusion of the zygotes and the development of an organism with intermingled cell lines. This happens at a very early stage of development, such as that of the blastocyst. Such an organism is called a tetragametic chimera as it is formed from four gametes — two eggs and two sperm. Put another way, the chimera is formed from the merger of two nonidentical twins in a very early (zygote or blastocyst) phase. As such, they can be male, female, or hermaphroditic.
As the organism develops, the resulting chimera can come to possess organs that have different sets of chromosomes. For example, the chimera may have a liver composed of cells with one set of chromosomes and have a kidney composed of cells with a second set of chromosomes. This has occurred in humans, and at one time was thought to be extremely rare, though more recent evidence suggests that it is not as rare as previously believed. Most will go through life without realizing they are chimeras. The difference in phenotypes may be subtle (e.g., having a hitchhiker’s thumb and a straight thumb, eyes of slightly different colors, differential hair growth on opposite sides of the body, etc) or completely undetectable . Another telltale of a person being a chimera is visible Blaschko’s lines.
Affected persons are identified by the finding of two populations of red cells or, if the zygotes are of opposite sex, ambiguous genitalia and hermaphroditism alone or in combination; such persons sometimes also have patchy skin, hair, or eye pigmentation (heterochromia). If the blastocysts are of the same sex, it can only be detected through DNA testing, although this is a rare procedure. If the blastocysts are of opposite sex, genitals of both sexes are often formed, either ovary and testis, or combined ovotestes, in one rare form of intersexuality, a condition previously known as true hermaphroditism. As of 2003, there were about 30-40 documented human cases in the literature, according to New Scientist. Since hermaphroditic chimeras would be expected to be half of all chimeras, with purely male and purely female chimeras being one-quarter each, this would suggest that the condition is not particularly common.
Natural chimeras are almost never detected unless the offspring has abnormalities such as male/female or hermaphrodite characteristics or skin discolouring. The most noticeable are some male tortoiseshell cats or animals with ambiguous sex organs. Recent studies of tortoiseshell male cats and unusually coloured tortoiseshell-like cats suggest that natural chimerism is far more common than previously realised and that it frequently goes undetected.[citation needed]
Chimerism can be detected in DNA testing. The Lydia Fairchild case, for example, was brought to court after DNA testing showed that her children could not be hers, since DNA did not match. The charge against her was dismissed when it became clear that Lydia was a chimera, with the matching DNA being found in her cervical tissue. Another case was that of Karen Keegan.[1]
The tetragametic state has important implications for organ or stem-cell transplantation. Chimeras typically have immunologic tolerance to both cell lines. Thus, for a tetragametic human, a wider array of relatives and other persons may be eligible to be an organ donor.[citation needed]
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