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Updated: Mar 20, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy]
Shaobin Lin1, Zhiqiang Zhang, Jianzhu Wu
1Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China. zhouyifm@163.com.
Objective:
To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.
Methods:
G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.
Results:
SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.
Conclusion:
The 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.
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