Chromosome 10p11.2-P12.2 duplication: Report of a patient and review of the literature
American Journal of Medical Genetics, ISSN: 0148-7299, Vol: 104, Issue: 3, Page: 204-208
2001
- 13Citations
- 12Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Article Description
We report on a young male with mental retardation, slightly upslanting palpebral fissures, strabismus, high-arched palate, retrognathia, and flat feet. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 10p11.2→p12.2 duplication. Karyotypes of the parents were normal. Comparison of the clinical findings observed in the present patient with those observed in other reported cases with duplication 10p suggest that the presence of high arched/cleft palate and retrognathia may be related to the 10p11.2→p12.2 duplication. Also, no critical region for the trisomy 10p syndrome has been delimited. © 2001 Wiley-Liss, Inc.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85047686073&origin=inward; http://dx.doi.org/10.1002/ajmg.10021.abs; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=0035576287&origin=inward; http://dx.doi.org/10.1002/ajmg.10021; https://onlinelibrary.wiley.com/doi/10.1002/ajmg.10021; http://doi.wiley.com/10.1002/ajmg.10021.abs; https://dx.doi.org/10.1002/ajmg.10021; https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.10021
Wiley
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