Natural human chimeras: A review

• Published in: European journal of medical genetics Vol. 63; no. 9; p. 103971
• Main Author: Madan, Kamlesh
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.09.2020
• Subjects: Blood chimeras; Chromosome Disorders - genetics; Chromosome Disorders - pathology; Disorders of Sex Development - genetics; Disorders of Sex Development - pathology; Fusion chimeras; Human natural chimeras; Humans; Karyotype; Microchimeras; Mosaicism; Phenotype; Human natural chimeras; Microchimeras; Blood chimeras; Fusion chimeras
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.103971

The term chimera has been borrowed from Greek mythology and has a long history of use in biology and genetics. A chimera is an organism whose cells are derived from two or more zygotes. Recipients of tissue and organ transplants are artificial chimeras. This review concerns natural human chimeras. The first human chimera was reported in 1953. Natural chimeras can arise in various ways. Fetal and maternal cells can cross the placental barrier so that both mother and child may become microchimeras. Two zygotes can fuse together during an early embryonic stage to form a fusion chimera. Most chimeras remain undetected, especially if both zygotes are of the same genetic sex. Many are discovered accidently, for example, during a routine blood group test. Even sex-discordant chimeras can have a normal male or female phenotype. Only 28 of the 50 individuals with a 46,XX/46,XY karyotype were either true hermaphrodites or had ambiguous genitalia. Blood chimeras are formed by blood transfusion between dizygotic twins via the shared placenta and are more common than was once assumed. In marmoset monkey twins the exchange via the placenta is not limited to blood but can involve other tissues, including germ cells. To date there are no examples in humans of twin chimeras involving germ cells. If human chimeras are more common than hitherto thought there could be many medical, social, forensic, and legal implications. More multidisciplinary research is required for a better understanding of this fascinating subject.