Clinical phenotype and genetic analysis of a fetus with recombinant chromosome 8 syndrome
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目的 探讨重组8号染色体(Rec8)综合征胎儿的临床特征和分子遗传学致病机制。 方法 选取2021年7月20日因"无创产前检测(NIPT)提示胎儿性染色体非整倍体高风险(胎龄为21周)"至山东第一医科大学附属省立医院确诊为Rec8综合征胎儿为研究对象。收集胎儿临床资料，进行胎儿羊水染色体G显带核型分析及染色体微阵列芯片分析(CMA)，对其父母进行外周血染色体G显带核型分析。 结果 胎儿胎龄为23周时，产前胎儿超声提示胎儿眼距宽、唇厚、肾盂分离、肝脏强回声及室间隔缺损。其羊水核型分析结果为46，XX，rec(8)(qter→q22.3：：p23.1→qter)，CMA检测结果为arr[GRCh37]8p23.3p23.1(158049_6793322)×1，8q22.3q24.3(101712402_146295771)×3。胎儿母亲核型为46，XX，inv(8)(p23.1q22.3)，父亲核型正常。 结论 最终被确诊Rec8综合征胎儿的Rec8变异来源于其母亲的8号染色体臂间倒位。该Rec8综合征断裂点是1个新的断裂点。 Objective To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. Methods A fetus who was diagnosed with Rec8 syndrome at Shandong Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT)(at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. Results Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46, XX, rec(8)(qter→q22.3: : p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46, XX, inv(8)(p23.1q22.3), whilst her father was normal. Conclusion The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 has differed from previously reported ones.
Objective To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. Methods A fetus who was diagnosed with Rec8 syndrome at Shandong Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT)(at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected. G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out on the amniotic fluid sample. Peripheral blood samples of the couple were also subjected to G banded karyotyping analysis. Results Prenatal ultrasonography at 23rd gestational week revealed hypertelorism, thick lips, renal pelvis separation, intrahepatic echogenic foci, and ventricular septal defect. The karyotype of amniotic fluid was 46, XX, rec(8)(qter→q22.3: : p23.1→qter), and CMA was arr[GRCh37]8p23.3p23.1(158049_6793322)×1, 8q22.3q24.3(101712402_146295771)×3. The karyotype of the pregnant woman was 46, XX, inv(8)(p23.1q22.3), whilst her father was normal. Conclusion The Rec8 syndrome in the fetus may be attributed to the pericentric inversion of chromosome 8 in its mother. Molecular testing revealed that the breakpoints of this Rec8 has differed from previously reported ones.
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