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. 2022 Jun 7;15(1):22.
doi: 10.1186/s13039-022-00599-w.

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Jianlong Zhuang #  1 , Chunnuan Chen #  2 , Rongfu Huang  3 , Qi Luo  4 , Yuying Jiang  5 , Shuhong Zeng  5 , Yuanbai Wang  5 , Yingjun Xie  6   7
Affiliations

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population

Jianlong Zhuang et al. Mol Cytogenet. .

Abstract

Background: Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter.

Case presentation: A 30-year-old pregnant woman with recurrent pregnancy loss is enrolled in this research. In this pregnancy, spontaneous abortion occurred in the first trimester of her pregnancy. Chromosomal microarray analysis of the abortion tissue showed a partial 10p monosomy (arr[GRCh37] 10p15.3p11.21(100,047_34,848,853) × 1) and a duplication of 10q (arr[GRCh37] 10q26.13q26.3(126,093,990_135,426,386) × 3). Further parental karyotype analysis indicated that the chromosomal abnormalities in the fetus was resulted from paternal pericenric inversion inv(10)(p11.21q26.13). This study presents the first case of a large deletion of 10p combined with 10q trisomy, resulting in pregnancy loss. Of these two manifestations, the large deletion of chromosome 10p may be the primary reason for spontaneous abortion in this subject.

Conclusions: This study presents the first case of partial 10p monosomy associated with 10q trisomy in Chinese population. It provides more information on the chromosome aberration of 10p monosomy and 10q trisomy and further strengthens the application value of microarray in the molecular etiological diagnosis of recurrent spontaneous abortion.

Keywords: Molecular cytogenetics; Monosomy 10p; Pericentric inversion; Recurrent spontaneous abortion; Trisomy 10q.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
The result of chromosome karyotype in the prospective father. The arrows indicated the breakpoints of inversion of chromosome 10. The upper arrow elicited the breakpoint of 10p11.21 and the lower arrow indicated the location of 10q26.13, and the karyotype of the prospective father was described as 46,XY, inv(10)( p11.21q26.13)
Fig. 2
Fig. 2
The SNP array detection results of in the fetus. The arrows indicated the locus of duplication and deletion segments. The red bar represents 10p11.21p15.3 deletion and the blue bar indicates the duplication of 10q26.13q26.3
See this image and copyright information in PMC

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References

    1. Blue NR, Page JM, Silver RM. Genetic abnormalities and pregnancy loss. Semin Perinatol. 2019;43(2):66–73. doi: 10.1053/j.semperi.2018.12.002. - DOI - PMC - PubMed
    1. Tunç E, Tanrıverdi N, Demirhan O, Süleymanova D, Çetinel N. Chromosomal analyses of 1510 couples who have experienced recurrent spontaneous abortions. Reprod Biomed Online. 2016;32(4):414–419. doi: 10.1016/j.rbmo.2016.01.006. - DOI - PubMed
    1. Rajcan-Separovic E. Chromosome microarrays in human reproduction. Hum Reprod Update. 2012;18(5):555–567. doi: 10.1093/humupd/dms023. - DOI - PubMed
    1. Dhillon RK, Hillman SC, Morris RK, McMullan D, Williams D, Coomarasamy A, et al. Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis. BJOG. 2014;121(1):11–21. doi: 10.1111/1471-0528.12382. - DOI - PubMed
    1. Ciuladaite Z, Preiksaitiene E, Utkus A, Kučinskas V. Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15 1q26 12) and rec(10)dup(10q)inv(10)(p15 1q26 12), due to a familial pericentric inversion. Cytogenet Genome Res. 2014;144(2):109–113. doi: 10.1159/000368863. - DOI - PubMed

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