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除染廃棄物の焼却灰 容積減らす新施設完成

福島県内の除染廃棄物を燃やして出る、汚染の程度が高い灰の容積を減らすための新しい施設が、福島第一原発の周辺にある中間貯蔵施設の用地に完成しました。

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Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

著者 Hu J , Ou Z , Surti U , Kochmar S , Hoffner L , Madan-Khetarpal S , Arnold GL , Walsh L , Acquaro R , Sebastian J , Yatsenko SA
Am J Med Genet A.2020 Jan 08 ; ():.
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Children or adults with mosaic trisomy 12 diagnosed postnatally are extremely rare. Only a small number of patients with this mosaicism have been reported in the literature. The clinical manifestation of mosaic trisomy 12 is variable, ranging from mild developmental delay to severe congenital anomaly and neonatal death. The trisomy 12 cells are not usually able to be detected by phytohemagglutinin stimulated peripheral blood chromosome analysis. The variability of phenotypes and the limited number of patients with this anomaly pose a challenge to predict the clinical outcomes. In this study, we present the phenotypes and laboratory findings in four patients and review the 11 previously reported patients with mosaic trisomy 12 diagnosed postnatally, as well as 11 patients with mosaic trisomy 12 diagnosed prenatally. The findings of this study provide useful information for laboratory diagnosis and clinical management of these patients.
PMID: 31913574 [PubMed - as supplied by publisher]
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