Abstract：
OBJECTIVE: We present incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome.
METHODS: A 38-year-old, gravida 2, para 1, phenotypically normal woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,t(7;8)(q31.2;p23.1)[2]/46,XY[20]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes and parental bloods revealed the result of a 2.178-Mb 8p23.2 microduplication encompassing CSMD1, or arr 8p23.2 (3,070,237-5,248,586) × 3.0 [GRCh37 (hg19)] in the fetus and the mother. The father did not have such a microduplicaiton. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 2880-g phenotypically normal male baby was delivered. All the cord blood, umbilical cord and placenta had the karyotype of 46.XY. When follow-up at age six months, the neonate was normal in phenotype and development.
CONCLUSIONS: Mosaicism for a balanced reciprocal translocation with a euploid cell line can be a transient and benign condition. Familial 8p23.2 microduplication encompassing CSMD1 can be associated with a favorable outcome.
METHODS: A 38-year-old, gravida 2, para 1, phenotypically normal woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,t(7;8)(q31.2;p23.1)[2]/46,XY[20]. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes and parental bloods revealed the result of a 2.178-Mb 8p23.2 microduplication encompassing CSMD1, or arr 8p23.2 (3,070,237-5,248,586) × 3.0 [GRCh37 (hg19)] in the fetus and the mother. The father did not have such a microduplicaiton. Prenatal ultrasound findings were unremarkable. At 38 weeks of gestation, a 2880-g phenotypically normal male baby was delivered. All the cord blood, umbilical cord and placenta had the karyotype of 46.XY. When follow-up at age six months, the neonate was normal in phenotype and development.
CONCLUSIONS: Mosaicism for a balanced reciprocal translocation with a euploid cell line can be a transient and benign condition. Familial 8p23.2 microduplication encompassing CSMD1 can be associated with a favorable outcome.
摘要：
目的：我们提出了家族性8p23.2微重复的附带检测，包括与马赛克46，XY相关的CSMD1，t（7;8）（q31.2;p23.1）/46，XY在妊娠羊膜腔穿刺术中没有明显的表型异常和良好的结局。
方法：38岁，gravida2，第1段，表型正常的女性在妊娠19周时接受了羊膜穿刺术，因为产妇年龄高。羊膜穿刺术显示核型为46，XY，t(7;8)(q31.2;p23.1)[2]/46,XY[20]。亲本核型正常。对从培养的羊膜细胞和亲本血液中提取的DNA进行的阵列比较基因组杂交（aCGH）分析显示，胎儿和母亲的2.178-Mb8p23.2微复制包含CSMD1或ARR8p23.2（3,070,237-5,248,586）×3.0[GRCh37（hg19）]。父亲没有这样的微型副本。产前超声检查结果无明显变化。妊娠38周时，接生了一个2880克表型正常的男婴.所有的脐带血，脐带和胎盘的核型为46。XY。在六个月的年龄进行随访时，新生儿表型和发育正常。
结论：整倍体细胞系的平衡相互易位的镶嵌可能是短暂的良性状况。包含CSMD1的家族性8p23.2微重复可能与有利的结果相关。
方法：38岁，gravida2，第1段，表型正常的女性在妊娠19周时接受了羊膜穿刺术，因为产妇年龄高。羊膜穿刺术显示核型为46，XY，t(7;8)(q31.2;p23.1)[2]/46,XY[20]。亲本核型正常。对从培养的羊膜细胞和亲本血液中提取的DNA进行的阵列比较基因组杂交（aCGH）分析显示，胎儿和母亲的2.178-Mb8p23.2微复制包含CSMD1或ARR8p23.2（3,070,237-5,248,586）×3.0[GRCh37（hg19）]。父亲没有这样的微型副本。产前超声检查结果无明显变化。妊娠38周时，接生了一个2880克表型正常的男婴.所有的脐带血，脐带和胎盘的核型为46。XY。在六个月的年龄进行随访时，新生儿表型和发育正常。
结论：整倍体细胞系的平衡相互易位的镶嵌可能是短暂的良性状况。包含CSMD1的家族性8p23.2微重复可能与有利的结果相关。
