Novel karyotypes of partial monosomy 21 and partial monosomy 1 and underlying etiology

We report two novel karyotypes in the siblings of a Chinese family, 45,XY,der(1)t(1;21)(q44;q21)mat,-21 and 45,XX,der(1)t(1;21)(q44;q21)mat,-21. These karyotypes are the result of unbalanced inheritance of a maternal balanced reciprocal translocation 46,XX,t(1;21)(q44;q21). Both patients share a phe...

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Bibliografische gegevens
Gepubliceerd in:Int J Clin Exp Pathol
Hoofdauteurs: Wang, Fengju, Qi, Jun, Yu, Tong, Wang, Lihong, Zhang, Zhipeng, Chen, Shuangfeng, Zhao, Peige, Yuan, Lindong
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: e-Century Publishing Corporation 2017
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6965908/
https://ncbi.nlm.nih.gov/pubmed/31966860
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