Identification of trisomy in Macaca fascicularis by fluorescence in situ hybridization with a human chromosome 13 DNA library

Ward, Oscar G.; Miller, R. L.; Johnson, Eugene H.; Lucas, Joe N.; Meyne, Julianne

doi:10.1007/bf00208278

Cited by 9 publications

(5 citation statements)

References 23 publications

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“…Down syndrome characteristics have been reported in an orangutan (Pongo pygmaeus) (Andrle et al, 1979) and a gorilla (Turleau et al, 1972), both with trisomy 22 which is the equivalent of human trisomy 21. FISH with a human 13 painting probe confirmed trisomy 16 in the crab-eating macaque, Macaca fascicularis (Ward et al, 1994). Trisomy 18 has been reported in the pigtail macaque, M. nemstrina (Ruppenthal et al, 1983) and in the rhesus monkey, M. mulatta (de Waal et al, 1996).…”

Section: Discussionmentioning

confidence: 81%

Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome

Lear

Houck²,

Zhang³

et al. 2001

Cytogenet Genome Res

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A female bonobo (Pan paniscus) born at the San Diego Zoo exhibited inability to nurse and progressive weakness plus multiple congenital abnormalities including aural canal atresia and stenosis, malformed auricles, clenched hands, lordosis, agenesis of the caudal vertebra and cardiac abnormalities. Chromosome analysis identified the bonobo as being trisomic for chromosome 17, the homolog of human chromosome 18. Genotyping with human microsatellites suggested the extra chromosome was maternal in origin. In addition, a male lowland gorilla (Gorilla gorilla gorilla), also born at the zoo, exhibited postnatal growth retardation, facial dysmorphisms and small hands with short fingers. Karyotype analysis revealed the gorilla carried a deletion of the distal q arm of chromosome 3, the homolog of human chromosome 4. The phenotypic and karyotypic abnormalities found in the bonobo and gorilla were consistent with the characteristics of human trisomy 18 and human deletion 4q syndrome, respectively.

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Section: Discussionmentioning

confidence: 81%

Trisomy 17 in a bonobo (Pan paniscus) and deletion of 3q in a lowland gorilla (Gorilla gorilla gorilla): comparison with human trisomy 18 and human deletion 4q syndrome

Lear

Houck²,

Zhang³

et al. 2001

Cytogenet Genome Res

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“…In general, these animals were less severely affected than their human counterparts. Three previous cases of nonhuman primate trisomy homologous to human trisomy 13 have been published [Best et al, 1999;Ruppenthal et al, 2004;Vigfusson et al, 1986;Ward et al, 1994]. These included two cases in the pigtailed macaque, Macaca nemestrina, and one in the long-tailed macaque, M. fascicularis.…”

Section: Discussionmentioning

confidence: 92%

Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Moore

Hubbard

Dick

et al. 2007

American J Primatol

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Trisomy 13 in humans is the third most common autosomal abnormality at birth, after trisomy 21 and trisomy 18. It has a reported incidence of between 1:5,000 and 1:30,000 live births. It is associated with multiple abnormalities, many of which shorten lifespan. We describe here the first reported case of a baboon (Papio hamadryas) with trisomy of chromosome 17, which is homologous to human chromosome 13. The trisomic infant was born to a consanguineous pair of baboons and had morphological characteristics similar to those observed in human trisomy 13, including bilateral polydactyly in the upper limbs, a patent foramen ovale, and pyelectasis. Molecular DNA analysis using human chromosome 13 markers was consistent with the affected infant inheriting two copies of chromosome 17 derived from the same parental chromosome. This trisomy was, therefore, due to either an error in meiosis II or the result of postzygotic nondisjunction. The parental origin, however, could not be determined.

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“…In non-human primates, several cases of autosomal trisomies corresponding to human trisomies 21, 18, and 13 have been reported, such as chimpanzee trisomy 22 [Mc-Clure et al, 1969;Hirata et al, 2017], bonobo trisomy 17 [Lear et al, 2001], orangutan trisomy 22 [Andrle et al, 1979], baboon trisomies 17 and 18 [Howell et al, 2006;Moore et al, 2007], and night monkey trisomy 18 [Hirai et al, 2017]. In macaques, 2 cases homologous to human trisomy 18 [Swartz and Sackett, 1994;de Waal et al, 1996] and 3 cases homologous to human trisomy 13 [Vigfusson et al, 1986;Ward et al, 1994;Ruppenthal et al, 2004] have been reported. Cases of trisomy 17 in Macaca nemestrina as well as trisomy 18 in Macaca mulatta are likely to result in severe signs and multiple anomalies during development, even in mosaic individuals; however, cases of trisomy 17 in M. fascicularis do not show the severe trisomy 13 features seen in humans.…”

Section: Discussionmentioning

confidence: 99%

Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (Macaca fascicularis) by Multicolor FISH Techniques

Kimura

Yahashi

Chatani

et al. 2021

Cytogenet Genome Res

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A female cynomolgus monkey (Macaca fascicularis) with facial features characteristic of Down syndrome showed abnormal behavior, unwariness toward humans, and poor concentration. The number of metaphase chromosomes in blood lymphocytes was examined and found to be 43, which indicated one extra chromosome to the normal diploid number (2n = 42). We then used Q-banding and multicolor FISH techniques to identify the extra chromosome. The results revealed an additional chromosome 17, with no other chromosomal rearrangements, such as translocations. Since no mosaicism or heterozygous variant chromosomes were observed, full trisomy 17 was assessed in this female cynomolgus monkey. Chromosome 17 corresponds to human chromosome 13, and human trisomy 13, known as Patau syndrome, results in severe clinical signs and, often, a short life span; however, this individual has reached an age of 10 years with only mild clinical signs. Although genomic differences exist between human and macaques, this individual’s case could help to reveal the pathological and genetic mechanisms of Patau syndrome.

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Identification of trisomy in Macaca fascicularis by fluorescence in situ hybridization with a human chromosome 13 DNA library

Cited by 9 publications

References 23 publications

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

Trisomy 17 in a bonobo <i>(Pan paniscus)</i> and deletion of 3q in a lowland gorilla <i>(Gorilla gorilla gorilla):</i> comparison with human trisomy 18 and human deletion 4q syndrome

Trisomy 17 in a baboon (Papio hamadryas) with polydactyly, patent foramen ovale and pyelectasis

Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (<b><i>Macaca fascicularis</i></b>) by Multicolor FISH Techniques

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