Abstract：
OBJECTIVE: We present mosaic distal 10q deletion at prenatal diagnosis in a pregnancy associated with a favorable fetal outcome.
METHODS: A 40-year-old, gravida 2, para 0, woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(10) (q26.13)[6]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 35% mosaicism for the 10q26.13q26.3 deletion. At 22 weeks of gestation, she underwent cordocentesis which revealed a karyotype of 46,XY,del(10) (q26.13)[16]/46,XY[24]. Prenatal ultrasound findings were normal. At 24 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(10) (q26.13)[4]/46,XY[22]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 10 by quantitative fluorescence polymerase chain reaction (QF-PCR), arr 10q26.13q26.3 × 1.6 (40% mosaicism) by aCGH, and 29.8% (31/104 cells) mosaicism for the distal 10q deletion by interphase fluorescence in situ hybridization (FISH). The woman was advised to continue the pregnancy, and a phenotypically normal 2,900-g male baby was delivered at 39 weeks of gestation. The cord blood had a karyotype of 46,XY,del(10) (q26.13)[6]/46,XY[34], and both the umbilical cord and the placenta had the karyotype of 46,XY. When follow-up at age four months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(10) (q26.13)[5]/46,XY[35], and interphase FISH analysis on buccal mucosal cells showed 8% (8/102 cells) mosaicism for distal 10q deletion.
CONCLUSIONS: Mosaic distal 10q deletion with a normal cell line at prenatal diagnosis can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line.
METHODS: A 40-year-old, gravida 2, para 0, woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(10) (q26.13)[6]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 35% mosaicism for the 10q26.13q26.3 deletion. At 22 weeks of gestation, she underwent cordocentesis which revealed a karyotype of 46,XY,del(10) (q26.13)[16]/46,XY[24]. Prenatal ultrasound findings were normal. At 24 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(10) (q26.13)[4]/46,XY[22]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 10 by quantitative fluorescence polymerase chain reaction (QF-PCR), arr 10q26.13q26.3 × 1.6 (40% mosaicism) by aCGH, and 29.8% (31/104 cells) mosaicism for the distal 10q deletion by interphase fluorescence in situ hybridization (FISH). The woman was advised to continue the pregnancy, and a phenotypically normal 2,900-g male baby was delivered at 39 weeks of gestation. The cord blood had a karyotype of 46,XY,del(10) (q26.13)[6]/46,XY[34], and both the umbilical cord and the placenta had the karyotype of 46,XY. When follow-up at age four months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(10) (q26.13)[5]/46,XY[35], and interphase FISH analysis on buccal mucosal cells showed 8% (8/102 cells) mosaicism for distal 10q deletion.
CONCLUSIONS: Mosaic distal 10q deletion with a normal cell line at prenatal diagnosis can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line.
摘要：
目的：我们在产前诊断时提出了与良好胎儿结局相关的妊娠中的马赛克远端10q缺失。
方法：40岁，gravida2，第0段，女性在妊娠16周时接受了羊膜穿刺术，因为母亲年龄高。羊膜穿刺术显示核型为46，XY，del(10)(q26.13)[6]/46,XY[17]。对从未培养的羊膜细胞提取的DNA进行的同时阵列比较基因组杂交（aCGH）分析显示，10q26.13q26.3缺失具有35％的镶嵌性。妊娠22周时,她接受了脐带穿刺术，发现核型为46，XY，del(10)(q26.13)[16]/46,XY[24]。产前超声检查结果正常。在妊娠24周的时候,她被推荐接受遗传咨询，重复羊膜穿刺术显示核型为46，XY，del(10)(q26.13)[4]/46,XY[22]。亲本核型正常。通过定量荧光聚合酶链反应（QF-PCR）对未培养的羊膜细胞进行分子遗传学分析，未发现单亲二体（UPD）10，aCGH的arr10q26.13q26.3×1.6(40%马赛克)，通过间期荧光原位杂交（FISH），远端10q缺失为29.8％（31/104个细胞）镶嵌性。建议该妇女继续怀孕，一名表型正常的2900克男婴在妊娠39周时分娩。脐带血的核型为46，XY，del(10)(q26.13)[6]/46,XY[34],脐带和胎盘的核型均为46，XY。在4个月大的时候进行随访,新生儿表型和发育正常。外周血核型为46,XY,del(10)(q26.13)[5]/46,XY[35],口腔粘膜细胞的间期FISH分析显示，远端10q缺失为8％（8/102细胞）镶嵌性。
结论：产前诊断时正常细胞系的马赛克远端10q缺失可能与良好的胎儿结局和非整倍体细胞系的围产期进行性减少有关。
方法：40岁，gravida2，第0段，女性在妊娠16周时接受了羊膜穿刺术，因为母亲年龄高。羊膜穿刺术显示核型为46，XY，del(10)(q26.13)[6]/46,XY[17]。对从未培养的羊膜细胞提取的DNA进行的同时阵列比较基因组杂交（aCGH）分析显示，10q26.13q26.3缺失具有35％的镶嵌性。妊娠22周时,她接受了脐带穿刺术，发现核型为46，XY，del(10)(q26.13)[16]/46,XY[24]。产前超声检查结果正常。在妊娠24周的时候,她被推荐接受遗传咨询，重复羊膜穿刺术显示核型为46，XY，del(10)(q26.13)[4]/46,XY[22]。亲本核型正常。通过定量荧光聚合酶链反应（QF-PCR）对未培养的羊膜细胞进行分子遗传学分析，未发现单亲二体（UPD）10，aCGH的arr10q26.13q26.3×1.6(40%马赛克)，通过间期荧光原位杂交（FISH），远端10q缺失为29.8％（31/104个细胞）镶嵌性。建议该妇女继续怀孕，一名表型正常的2900克男婴在妊娠39周时分娩。脐带血的核型为46，XY，del(10)(q26.13)[6]/46,XY[34],脐带和胎盘的核型均为46，XY。在4个月大的时候进行随访,新生儿表型和发育正常。外周血核型为46,XY,del(10)(q26.13)[5]/46,XY[35],口腔粘膜细胞的间期FISH分析显示，远端10q缺失为8％（8/102细胞）镶嵌性。
结论：产前诊断时正常细胞系的马赛克远端10q缺失可能与良好的胎儿结局和非整倍体细胞系的围产期进行性减少有关。
