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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

Abstract Background A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. Case presentation A 7-year-old female was refer...

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Principais autores: Harsh Sheth, Sunil Trivedi, Thomas Liehr, Ketan Patel, Deepika Jain, Jayesh Sheth, Frenny Sheth
格式: Artigo
语言:Inglês
出版: BMC 2020-09-01
丛编:BMC Medical Genomics
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在线阅读:http://link.springer.com/article/10.1186/s12920-020-00796-9
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