Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

The present study is the first to report two cases of pure terminal chromosome 10p15.3 microdeletion syndrome in fetuses, offering valuable insights for the prenatal diagnosis of 10p15.3 microdeletion syndrome. Further, it is the first to describe mild clinical features, specifically limited to language impairment, in a patient with 10p15.3 microdeletion syndrome.

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Publication Details

Journal
BMC Medical Genomics
Published
2024-12-18
DOI
https://doi.org/10.1186/s12920-024-02063-7
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00

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article

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

Na Zhang, Yue Chen, Jianlong Zhuang, Xinying Chen et al.
BMC Medical Genomics
Genomic variations and chromosomal abnormalities
article

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis

Na Zhang, Yue Chen, Jianlong Zhuang, Xinying Chen, Nan Huang
article en

Abstract

The present study is the first to report two cases of pure terminal chromosome 10p15.3 microdeletion syndrome in fetuses, offering valuable insights for the prenatal diagnosis of 10p15.3 microdeletion syndrome. Further, it is the first to describe mild clinical features, specifically limited to language impairment, in a patient with 10p15.3 microdeletion syndrome.

BMC Medical GenomicsVol. 17(1)
Quanzhou Normal University (CN), Fujian Women and Children Hospital (CN), The 180th Hospital of PLA (CN)
Huaqiao University, Science and Technology Bureau of Quanzhou
Zero hunger
Openalex Percentile: Top 74%
Genomic variations and chromosomal abnormalities
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