胎儿嵌合型 13 号环状染色体的产前诊断：病例报告及文献复习。
Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.
机构信息
Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, 130021, China.
出版信息
Taiwan J Obstet Gynecol. 2021 May;60(3):554-558. doi: 10.1016/j.tjog.2021.03.031.
OBJECTIVE
To diagnose the ring chromosome 13 (r(13)) in a fetus, and analyze the genotype-phenotype correlation.
CASE REPORT
A 26-year-old woman who was second pregnancy, underwent amniocentesis at 18 weeks of gestation because of the increased nuchal translucency (NT). Prenatal ultrasound showed the NT thickness was 3.5 mm at 12 weeks of gestation and nuchal fold (NF) was 6.1 mm at 18 weeks of gestation, and amniotic fluid karyotype analysis revealed mosaic r(13). CMA detected a 16.293 Mb duplication at 13q21.32q31.1 and 31.303 Mb deletion at 13q31.1q34.
CONCLUSION
R(13) is a very rare chromosomal abnormality. Cytogenetic examination combined with CMA can provide accurate diagnosis and effective information for genetic counseling.
目的
诊断胎儿的 13 号环状染色体（r(13)），并分析基因型-表型相关性。
病例报告
一位 26 岁的女性，第二次妊娠，因颈项透明层（NT）增加而在妊娠 18 周时进行羊膜穿刺术。产前超声显示妊娠 12 周时 NT 厚度为 3.5mm，妊娠 18 周时 NF 为 6.1mm，羊水染色体核型分析显示嵌合 r(13)。CMA 检测到 13q21.32q31.1 处 16.293Mb 重复和 13q31.1q34 处 31.303Mb 缺失。
结论
r(13)是一种非常罕见的染色体异常。细胞遗传学检查结合 CMA 可以为遗传咨询提供准确的诊断和有效信息。
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