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

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 h...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Jin, Chunyan, Gu, Zhiping, Jiang, Xiaohan, Yu, Pei, Xu, Tianhui
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8214785/
https://ncbi.nlm.nih.gov/pubmed/34147104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01013-x
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