Clinical Manifestations of Partial Trisomy 2p

doi:10.1159/000367908

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Article

Clinical Manifestations of Partial Trisomy 2p

1 Jan 2014

Abstract excerpt

Sir,Martínez-Juárez et al. [2014] reported 2 siblings with trisomy 2p caused by maternal translocation t(2;12)(p22.3q24.3). Neither of these siblings nor several other patients with pure trisomy 2p cited by these authors had congenital diaphragmatic hernia (CDH), neuroblastoma or neural tube defects (NTD). Almost 20 years ago, we [Lurie et al., 1995] suggested that these findings are causally related to trisomy...

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PMID: 25322981
DOI: 10.1159/000367908

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