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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22

24 Sept 2013

Abstract excerpt

Interstitial duplications of the short arm of chromosome 2 have been rarely described. Here, we report on two unrelated patients with overlapping chromosome 2p16 → p22 de novo microduplications found by SNP-array analysis. The affected individuals were an 8-year-3-month-old boy with a direct duplication of approximately 14.6 Mb harboring 63 genes, and a 12-year-old girl with a direct duplication of around 9.6 Mb...

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PMID: 24115558
DOI: 10.1002/ajmg.a.36176

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