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A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling

Crossref DOI link: https://doi.org/10.1186/s12887-023-03872-y

Published Online: 2023-03-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Yin, Hui

Xie, Hua

Zou, Jizhen

Ye, Xue

Liu, Ying

He, Cai

Shangguan, Shaofang

Liu, Haoran

Chen, Xiaoli

Chen, Xiaobo
Funding

Funding for this research was provided by:

CAMS Innovation Fund for Medical Sciences (2016‐I2M‐1‐008)

Natural Science Foundation of Beijing Municipality (7202019)

Beijing Municipal Administration of Hospitals Incubating Program (PX2020056)

National Natural Science Foundation of China (31671310)

Capital Health Research and Development of Special (2020-2-1131)

Instituto Nacional de Pediatria (PY-2019-05)
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Text and Data Mining valid from 2023-03-04

Version of Record valid from 2023-03-04
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Article History

Received: 23 January 2022

Accepted: 27 January 2023

First Online: 4 March 2023

Declarations

:

: The parents of patient gave their written informed consent for the genetic analyses performed in this study. This study was approved by the ethics committee of the Capital Institute of Pediatrics (SHERLL 2020001).

: Written informed consent was obtained from the parents for publication of this case report.

: The authors have no conflicts of interest to declare.

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