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Article

A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited.

BMC medical genomics - 19 Jun 2021

Jin Chunyan, Gu Zhiping, Jiang Xiaohan, Yu Pei, Xu Tianhui

Abstract excerpt

BACKGROUND: Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. CASE PRESENTATION: Because serological screening was not performed at...

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

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Identifiers

PMID: 34147104
DOI: 10.1186/s12920-021-01013-x
PMCID: PMC8214785

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