羊膜腔穿刺时发现嵌合体，核型为46,XY，dup(14)(q12q22.3)/46,XY，该妊娠胎儿结局良好，且不同组织存在细胞遗传学差异。
Mosaic 46,XY,dup(14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
作者信息
Chen Chih-Ping, Wu Fang-Tzu, Chen Chen-Yu, Chen Shin-Wen, Chern Schu-Rern, Wu Peih-Shan, Pan Yen-Ting, Lee Chen-Chi, Lee Meng-Shan, Chen Yun-Yi, Wang Wayseen
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 & Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2023 Mar;62(2):343-347. doi: 10.1016/j.tjog.2023.01.003.
OBJECTIVE
We present mosaic 46,XY,dup (14) (q12q22.3)/46, XY at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
CASE REPORT
A 41-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer. Cytogenetic analysis on cultured amniocytes revealed a karyotype of 46,XY, dup (14) (q12q22.3)[7]/46,XY [13], and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr 14q12q22.3 × 2-3 with 25% mosaicism for partial 14q duplication. She was referred for genetic counseling. Prenatal ultrasound and parental karyotypes were normal. Repeat amniocentesis at 22 weeks of gestation revealed a karyotype of 46,XY,dup (14) (q12q22.3)[6]/46,XY [14], and in uncultured amniocytes, quantitative fluorescence polymerase chain reaction (QF-PCR) analysis excluded uniparental disomy (UPD) 14, aCGH revealed arr 14q12q22.3 × 2.3 with 30% mosaicism for dup (14) (q12q22.3), and interphase fluorescence in situ hybridization (FISH) showed 19.4% (24/124 cells) mosaicism for partial 14q duplication. She was encouraged to continue the pregnancy, and a 2450-g phenotypically normal male baby was delivered at 40 weeks of gestation. The karyotypes of cord blood, umbilical cord and placenta were 46,XY,dup (14) (q12q22.3)[14]/46,XY [26], 46,XY,dup (14) (q12q22.3)[7]/46,XY [33] and 46,XY,dup (14) (q12q22.3)[3]/46,XY [37], respectively. When follow-up at age four months, the neonate was phenotypically normal. The karyotype of peripheral blood was 46,XY,dup (14) (q12q22.3)[27]/46,XY [13], and interphase FISH analysis on 105 buccal mucosal cells detected partial 14q duplication signals in 5 cells (4.8% mosaicism). When follow-up at age nine months, the neonate was phenotypically normal. The karyotype of peripheral blood was 46,XY,dup (14) (q12q22.3)[25]/46,XY [15].
CONCLUSION
Mosaic dup (14) (q12q22.3) with a normal cell line at amniocentesis may be a benign condition, and can be associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
目的
我们报告了一例羊膜腔穿刺时发现的嵌合型46,XY,dup(14)(q12q22.3)/46,XY的病例，该妊娠结局良好，且不同组织存在细胞遗传学差异。
病例报告
一名41岁的初产妇因高龄妊娠在孕17周时接受了羊膜腔穿刺。此次妊娠通过体外受精和胚胎移植受孕。对培养的羊水细胞进行细胞遗传学分析显示核型为46,XY,dup(14)(q12q22.3)[7]/46,XY[13]，同时对从未培养的羊水细胞中提取的DNA进行的阵列比较基因组杂交(aCGH)分析显示arr 14q12q22.3×2 - 3，14号染色体部分重复的嵌合率为25%。她被转介进行遗传咨询。产前超声和父母核型均正常。孕22周时重复羊膜腔穿刺显示核型为46,XY,dup(14)(q12q22.3)[6]/46,XY[14]，对未培养的羊水细胞进行定量荧光聚合酶链反应(QF-PCR)分析排除了14号染色体单亲二倍体(UPD)，aCGH显示arr 14q12q22.3×2.3，dup(14)(q12q22.3)的嵌合率为30%，间期荧光原位杂交(FISH)显示14号染色体部分重复的嵌合率为19.4%(24/124个细胞)。她被鼓励继续妊娠，孕40周时分娩出一名体重2450克、表型正常的男婴。脐血、脐带和胎盘的核型分别为46,XY,dup(14)(q12q22.3)[14]/46,XY[26]、46,XY,dup(14)(q12q22.3)[7]/46,XY[33]和46,XY,dup(14)(q12q22.3)[3]/46,XY[37]。在4个月大进行随访时，新生儿表型正常。外周血核型为46,XY,dup(14)(q12q22.3)[27]/46,XY[13]，对105个颊黏膜细胞进行间期FISH分析在5个细胞中检测到14号染色体部分重复信号(嵌合率为4.8%)。在9个月大进行随访时，新生儿表型正常。外周血核型为46,XY,dup(14)(q12q22.3)[25]/46,XY[15]。
结论
羊膜腔穿刺时发现的伴有正常细胞系的嵌合型dup(14)(q12q22.3)可能是一种良性情况，且可能与良好的胎儿结局及不同组织中的细胞遗传学差异相关。
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