羊膜穿刺术时罗伯逊易位嵌合体：45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, 遗传咨询，产前诊断及对有良好胎儿结局妊娠的产后随访。
Mosaicism for Robertsonian jumping translocation at amniocentesis: 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY, genetic counseling, prenatal diagnosis and postnatal follow-up in a pregnancy with a favorable fetal outcome.
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, 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 Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, Taichung Veterans General Hospital, Taichung, Taiwan; Department of Nursing, Hungkuang University, Taichung, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2023 Jul;62(4):588-593. doi: 10.1016/j.tjog.2023.05.006.
OBJECTIVE
We present genetic counseling, prenatal diagnosis and postnatal follow-up of 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY at amniocentesis in a pregnancy with a favorable fetal outcome.
CASE REPORT
A 27-year-old, primigravid woman underwent amniocentesis at 19 weeks of gestation because increased nuchal translucency thickness, and the result was 45,XY,der(15;22)(q10;q10)[29]/46,XY,i(15)(q10)[3]/46,XY[5]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (1-22) × 2, (X,Y) × 1. The maternal karyotype was 45,XX,der(15;22)(q10;q10), and the paternal karyotype was 46,XY. She was referred for genetic counseling, and repeat amniocentesis performed at 23 weeks of gestation revealed 45,XY,der(15;22)(q10;q10)mat[23]/45,XY,-22[2]. aCGH analysis on uncultured amniocytes detected no genomic imbalance, and polymorphic DNA marker analysis excluded uniparental disomy (UPD) 15. Fluorescence in situ hybridization (FISH) analysis using the chromosome 15q specific probe and the chromosome 22q specific probe detected three 15q signals in 4/104 cells (3.8%). The woman was advised to continue the pregnancy, and, a 3186-g phenotypically normal male baby was delivered at 38 weeks of gestation. The umbilical cord had a karyotype of 45,XY,der(15;22)(q10;q10) (40/40 cells). When follow-up at age seven months, the neonate was normal in development, the peripheral blood had a karyotype of 45,XY,der(15;22)(q10;q10) (40/40 cells), and the buccal mucosal cells had normal signals in all 100 cells.
CONCLUSIONS
Mosaicism for Robertsonian jumping translocations at amniocentesis can be a transient condition and can be associated with a familial Robertsonian translocation and a favorable fetal outcome. Prenatal diagnosis of a Robertsonian jumping translocation involving chromosome 15 should include UPD 15 testing to exclude UPD 15.
目的
我们报告了一例在妊娠中进行遗传咨询、产前诊断和产后随访的病例，该妊娠为 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY 患者，经羊膜穿刺术检测到有利的胎儿结局。
病例报告
一名 27 岁、初产妇因颈项透明层增厚行羊膜穿刺术，结果为 45,XY,der(15;22)(q10;q10)[29]/46,XY,i(15)(q10)[3]/46,XY[5]。从未培养的羊水中提取的 DNA 进行同时的比较基因组杂交（aCGH）分析显示 arr(1-22)×2，(X，Y)×1。母亲的核型为 45,XX,der(15;22)(q10;q10)，父亲的核型为 46,XY。她被转介进行遗传咨询，在妊娠 23 周时再次进行羊膜穿刺术，结果显示 45,XY,der(15;22)(q10;q10)mat[23]/45,XY,-22[2]。未培养的羊水中的 aCGH 分析未检测到基因组失衡，多态性 DNA 标记分析排除了 15 号染色体单亲二体（UPD）15。使用 15q 染色体特异性探针和 22q 染色体特异性探针进行荧光原位杂交（FISH）分析，在 4/104 个细胞（3.8%）中检测到 3 个 15q 信号。建议该妇女继续妊娠，于 38 周时分娩出一名 3186g 表型正常的男婴。脐带核型为 45,XY,der(15;22)(q10;q10)（40/40 个细胞）。在七个月大时进行随访时，新生儿发育正常，外周血核型为 45,XY,der(15;22)(q10;q10)（40/40 个细胞），颊黏膜细胞中有 100 个细胞的正常信号。
结论
在羊膜穿刺术时发现罗伯逊易位的嵌合性可能是一种短暂的情况，并可能与家族性罗伯逊易位和有利的胎儿结局有关。涉及 15 号染色体的罗伯逊易位的产前诊断应包括 UPD15 检测，以排除 UPD15。
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