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Primates (2017) 58:267273 DOI 10.1007/s10329-017-0597-8
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Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee
Satoshi Hirata1 Hirohisa Hirai2 Etsuko Nogami1 Naruki Morimura1
Toshifumi Udono1
Received: 9 December 2016 / Accepted: 20 January 2017 / Published online: 21 February 2017 Japan Monkey Centre and Springer Japan 2017
Abstract We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. All of these symptoms are common in human Down syndrome. This case was the second reported case of trisomy 22 in the chimpanzee. The chimpanzee in our case became blind by 7 years old, making social life with other chimpanzees difcult, but opportunities to interact with other conspecic individuals have been offered routinely. We believe that providing her with the best care over the course of her life will be essential.
Keywords Chimpanzee Trisomy Chromosomal
abnormality Down syndrome Cataract Atrial septal
defect
Introduction
Down syndrome in humans is a chromosome aberration caused by the presence of a third copy of chromosome 21 (HSA21), or trisomy 21 (Down 1866; Jacobs et al. 1959;
Lejeune et al. 1959). Trisomy 21 is the most common chromosomal abnormality in humans, occurring in up to 1 in 600 live births, typically associated with retarded growth, cognitive delay, and physical disabilities (Antonarakis et al. 2004; Hernandez and Fisher 1996). McClure et al. (1969) reported the rst case similar to Down syndrome in nonhuman animals. They described a female chimpanzee with trisomy 22. Her growth was retarded, and she had congenital heart disease. Two additional cases of trisomy 22 were later reported in two species of other great apes: gorilla and orangutan (Turleau et al. 1972; Andrle et al. 1979). In contrast to the normal diploid number of 46 in humans, the corresponding number of all of the great apes is 48, and chromosome 22 in great apes is homologous to HSA21 (Dutrillaux 1979; Jauch et al. 1992;...