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Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

The aim of this work was to explore the genetic cause of the proband (Ⅲ2) presenting with polyhydramnios and gastroschisis. Copy number variation sequencing (CNV-seq), methylation-specific multiplex PCR (MS-PCR), and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) wer...

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Principais autores: Junjie Hu, Ying Zhang, Yanmei Yang, Liya Wang, Yixi Sun, Minyue Dong
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2022-08-01
Serier:Frontiers in Genetics
Fag:
Kagami–Ogata syndrome
Temple syndrome
differentially methylated region
imprinting disorder
prenatal diagnosis
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2022.959666/full
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