羊膜穿刺术诊断出 47,XXY 和 7 三体（48,XXY,+7）双重嵌合体的胚胎嵌合体，此妊娠结局良好。
Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome.
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Tri-Service General Hospital Penghu Branch, Penghu, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2021 May;60(3):543-548. doi: 10.1016/j.tjog.2021.03.029.
OBJECTIVE
We present prenatal diagnosis of mosaicism for double aneuploidy of 47, XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome.
CASE REPORT
A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an increased risk for Down syndrome in maternal serum screening. Amniocentesis revealed a karyotype of 48,XXY,+7[8]/46,XY[16]. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed the result of arr [GRCh37] (7) × 3 [0.54], (X) × 2 [0.52], (Y) × 1, compatible with trisomy 7 mosaicism and Klinefelter syndrome mosaicism. The parental karyotypes and prenatal ultrasound findings were normal. Repeat amniocentesis performed at 23 weeks of gestation revealed a karyotype of 48,XXY,+7[13]/46,XY[7]. Simultaneous molecular cytogenetic analyses on uncultured amniocytes revealed 30% mosaicism for 48,XXY,+7 by aCGH and 37% (37/100 cells) mosaicism for trisomy 7 and disomy X by interphase fluorescence in situ hybridization (FISH) analysis. Polymorphic DNA marker analysis excluded uniparental disomy (UPD) 7 and indicated a maternal origin of the chromosome aberration. The pregnancy was continued to 39 weeks of gestation, and a 3070-g healthy male baby was delivered. The cord blood had a karyotype of 46,XY, the umbilical cord had a karyotype of 48,XXY,+7[3]/46,XY[37], and the placenta had a karyotype of 48,XXY,+7. At age one month, the neonate was phenotypically normal, and interphase FISH analysis revealed 4.8% (5/105 cells) mosaicism on buccal mucosal cells and 8.9% (8/90 cells) mosaicism on urinary cells for trisomy 7 and disomy X, compared with 2% in normal control. Interphase FISH analysis on buccal mucosal cells at age two months revealed normal findings in 100/100 cells.
CONCLUSION
Mosaic 48,XXY,+7 at amniocentesis without UPD 7 can be associated with a favorable fetal outcome. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may occur in mosaic 48,XXY,+7 at amniocentesis.
目的
我们报告了一例在羊膜穿刺术时发现的 47,XXY 双倍非整倍体和 7 三体（48,XXY,+7）镶嵌性的病例，该病例妊娠结局良好。
病例报告
一名 33 岁的女性因母体血清筛查提示唐氏综合征风险增加而在妊娠 17 周时接受了羊膜穿刺术。羊膜穿刺术显示核型为 48,XXY,+7[8]/46,XY[16]。同时对未培养的羊膜细胞进行的 array 比较基因组杂交（aCGH）分析显示结果为 arr [GRCh37]（7）×3[0.54]，（X）×2[0.52]，（Y）×1，符合 7 三体镶嵌性和 Klinefelter 综合征镶嵌性。父母的核型和产前超声检查均正常。妊娠 23 周时再次行羊膜穿刺术，显示核型为 48,XXY,+7[13]/46,XY[7]。同时对未培养的羊膜细胞进行的分子细胞遗传学分析显示，aCGH 分析显示 48,XXY,+7 存在 30%镶嵌性，间期荧光原位杂交（FISH）分析显示 7 三体和 X 单体性存在 37%（37/100 个细胞）镶嵌性。多态性 DNA 标记分析排除了 7 号染色体单亲二体（UPD），并提示染色体异常来源于母亲。妊娠继续至 39 周，分娩出 3070g 健康男婴。脐带血核型为 46,XY，脐带核型为 48,XXY,+7[3]/46,XY[37]，胎盘核型为 48,XXY,+7。出生后 1 个月，新生儿表型正常，间期 FISH 分析显示颊黏膜细胞存在 4.8%（5/105 个细胞）的 7 三体和 X 单体性镶嵌性，90 个尿细胞存在 8.9%（8/90 个细胞）的镶嵌性，而正常对照组为 2%。出生后 2 个月时，对颊黏膜细胞进行的间期 FISH 分析显示 100/100 个细胞均正常。
结论
无 UPD7 的羊膜穿刺术时发现的 48,XXY,+7 镶嵌性可能与良好的胎儿结局有关。在羊膜穿刺术时发现的 48,XXY,+7 镶嵌性中，培养的羊膜细胞和未培养的羊膜细胞之间可能存在核型差异。
Zotero 插件