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

• Published in: Molecular cytogenetics Vol. 15; no. 1; pp. 22 - 6
• Main Authors: Zhuang, Jianlong, Chen, Chunnuan, Huang, Rongfu, Luo, Qi, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 07.06.2022; BioMed Central; BMC
• Subjects: Abortion; Analysis; Case Report; Chromosome 10; Chromosome aberrations; Chromosome deletion; Chromosomes; Cytogenetics; DNA microarrays; Fetuses; Genes; Genetic aspects; Genetic disorders; Gestational age; Intellectual disabilities; Inversion; Karyotypes; Miscarriage; Molecular cytogenetics; Monosomy; Monosomy 10p; Parenting; Pericentric inversion; Pregnancy; Pregnant women; Recurrent spontaneous abortion; Trisomy; Trisomy 10q; China; Trisomy 10q; Monosomy 10p; Molecular cytogenetics; Recurrent spontaneous abortion; Pericentric inversion
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-022-00599-w

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. 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. 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.