Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192

Summary: In this study, we report on mosaic variegated aneuploidy (MVA) syndrome with tetraploidy and predisposition to infertility in a family. Sequencing analysis identified that the CEP192 biallelic variants (c.1912C>T, p.His638Tyr and c.5750A>G, p.Asn1917Ser) segregated with microcephaly,...

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Bibliographic Details
Main Authors: Jihong Guo, Wen-Bin He, Lei Dai, Fen Tian, Zhenqing Luo, Fang Shen, Ming Tu, Yu Zheng, Liu Zhao, Chen Tan, Yongteng Guo, Lan-Lan Meng, Wei Liu, Mei Deng, Xinghan Wu, Yu Peng, Shuju Zhang, Guang-Xiu Lu, Ge Lin, Hua Wang, Yue-Qiu Tan, Yongjia Yang
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:HGG Advances
Subjects:
mosaic variegated aneuploidy
tetraploidy
male infertility
CEP192 mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S266624772300088X

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http://www.sciencedirect.com/science/article/pii/S266624772300088X

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