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Article

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.

BMC medical genomics - 23 Mar 2021

Shi Panlai, Wang Conghui, Zheng Yuting, Kong Xiangdong

Abstract excerpt

BACKGROUND: Distal 8p duplication is rare but clinically significant. Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart. We aimed to provide a better understanding of the phenotypes by studying duplication and its effects in a single family. METHODS: In a family with a previously induced labor (second fetus) at 12 weeks...

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Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33757501
DOI: 10.1186/s12920-021-00940-z
PMCID: PMC7988938

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