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Review
. 2020 Jul;34(7):e23288.
doi: 10.1002/jcla.23288. Epub 2020 Mar 17.

Prenatal diagnosis of a de novo tetrasomy 15q24.3-25.3: Case report and literature review

Xiaonan Hu  1   2 , Leilei Li  1   2 , Hongguo Zhang  1   2 , Zhuming Hu  1   2 , Linlin Li  1   2 , Meiling Sun  1   2 , Ruizhi Liu  1   2
Affiliations
Review

Prenatal diagnosis of a de novo tetrasomy 15q24.3-25.3: Case report and literature review

Xiaonan Hu et al. J Clin Lab Anal. 2020 Jul.

Abstract

Background: Terminal duplication on chromosome 15q is a rare chromosomal variation. Affected individuals show similar features such as growth dysplasia or the development of frontal bossing, body deformities, facial abnormalities, and genitourinary or cardiovascular disorders. However, it is not yet clear whether such 15q repeats lead to identifiable patterns of clinical abnormalities. Therefore, the purpose of this study was to analyze the prenatal diagnostic results and clinical manifestations of a fetus with 15q duplication and to summarize the literature.

Methods: The case was a fetus at 28 weeks of gestation. The risk of Down syndrome from second-trimester screening was 1/140. Prenatal ultrasound and amniocentesis were performed, and chromosomal microarray analysis (CMA) was used for genetic analysis.

Results: The fetus had abnormal clinical features, including intracardiac echogenic focus in the left ventricle, an aberrant right subclavian artery, and growth delay. The fetal chromosomal karyotype was 46,XX,15q?,12q?,21pstk+, and CMA revealed a 10.163 Mb duplication at 15q24.3-q25.3. The couple chose to terminate the pregnancy after careful consideration.

Conclusions: The combination and rational application of cytogenetics technology and molecular genetics technology such as CMA will open up the field of clinical application and provide useful genetic counseling for parents of fetuses carrying such chromosomal duplications.

Keywords: 15q duplication; abnormal ultrasound; chromosomal microarray analysis; genetic counseling; prenatal diagnosis.

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Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Figure 1
Figure 1
Prenatal ultrasound findings at 28 wk of gestation: A, Intracardiac echogenic focus in the left ventricle; B, Aberrant right subclavian artery
Figure 2
Figure 2
A, Karyotype of the fetus identified by GTG banding technique. B, The mother's karyotype
Figure 3
Figure 3
Chromosomal microarray analysis (CMA) on uncultured amniocytes depicted 15q24.3‐q25.3 duplication
Figure 4
Figure 4
The involving genes contained in the region of 15q24.3‐q25.3 (15:77456021‐87618593). The figure is modified from the DECIPHER genome browser
See this image and copyright information in PMC

References

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Supplementary concepts