Taiwanese journal of obstetrics & gynecology · 2020
Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes.
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Chen Qiuqing, Xu Zhen, Chen Guoqiang, Liu Sha, Xia Yanzhi
Аннотация
OBJECTIVE: Here we present three cases of chromosomal abnormalities with favorable outcomes.
CASE REPORT: In Case 1, conventional karyotyping revealed a karyotype of 46, XY,t(7; 14) (q35; q13)[4]/46,XY[26]. Array comparative genomic hybridization (aCGH) analysis revealed no genomic imbalance. In Case 2, conventional karyotyping revealed a norma karyotype but aCGH analysis revealed a 3.2M chromosomal duplication (13q12.11q12.12(22, 073, 046_25, 230, 759)x3). In Case 3, aCGH analysis revealed a 5.5M chromosomal deletion (9q21.13q21.32 (78, 645, 382_84, 115, 555) x1). In all three cases, ultrasound examination showed no dysmorphisms and intrauterine growth restrictions (IUGRs) in the fetus. All three pregnancies resulted in phenotypically normal babies.
CONCLUSION: Chromosomal abnormalities may be associated with favorable outcomes. Combining conventional karyotyping, aCGH analysis and ultrasound results can provide a more accurate risk assessment for pregnant women with advanced age.
CASE REPORT: In Case 1, conventional karyotyping revealed a karyotype of 46, XY,t(7; 14) (q35; q13)[4]/46,XY[26]. Array comparative genomic hybridization (aCGH) analysis revealed no genomic imbalance. In Case 2, conventional karyotyping revealed a norma karyotype but aCGH analysis revealed a 3.2M chromosomal duplication (13q12.11q12.12(22, 073, 046_25, 230, 759)x3). In Case 3, aCGH analysis revealed a 5.5M chromosomal deletion (9q21.13q21.32 (78, 645, 382_84, 115, 555) x1). In all three cases, ultrasound examination showed no dysmorphisms and intrauterine growth restrictions (IUGRs) in the fetus. All three pregnancies resulted in phenotypically normal babies.
CONCLUSION: Chromosomal abnormalities may be associated with favorable outcomes. Combining conventional karyotyping, aCGH analysis and ultrasound results can provide a more accurate risk assessment for pregnant women with advanced age.