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 University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2014 Dec;53(4):566-71. doi: 10.1016/j.tjog.2014.09.004.
This study aims to present molecular cytogenetic characterization of Pallister-Killian syndrome (PKS).
A 37-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+i(12)(p10)[6]/48,XY,+i(12)(p10)×2[1]/46,XY[6]. Repeated amniocentesis was performed at 20 weeks of gestation. Array comparative genomic hybridization (aCGH) was performed using uncultured amniocytes, cord blood, and skin. Quantitative fluorescent polymerase chain reaction (QF-PCR) was performed using uncultured amniocytes and parental bloods. Interphase fluorescence in situ hybridization (FISH) analysis was performed using uncultured amniocytes and cultured stimulated cord blood lymphocytes. Conventional cytogenetic analysis was performed using cultured cells from amniotic fluid, skin, placenta, umbilical cord, and cord blood.
Repeated amniocentesis revealed a mosaic tetrasomy 12p level of 25% (10/40), cultured cord blood lymphocytes had no mosaicism, cultured skin fibroblasts had a mosaic tetrasomy 12p level of 52.5% (21/40), umbilical cord fibroblasts had a mosaic tetrasomy 12p level of 72.5% (29/40), and the placental cells had a mosaic tetrasomy 12p level of 2.5% (1/40) on conventional cytogenetics. An aCGH analysis revealed that the increases in gene dosage in 12p for uncultured amniocytes, skin, and cord blood were the log2 ratios of 0.9, 0.7, and 0.7, respectively. Interphase FISH on uncultured amniocytes revealed a mosaic level of 73.1% (49/67) (tetrasomy 12p: 33; hexasomy 12p: 16). Interphase FISH analysis of stimulated cultured cord blood lymphocytes revealed a mosaic level of 58.3% (60/103) (tetrasomy 12p: 51; hexasomy 12p: 9).
In the diagnosis of PKS by conventional culture cytogenetics, cord blood samplings and placental samplings are prone to a negative result when compared with amniocentesis. Whenever cord blood sampling is applied for prenatal diagnosis of PKS, aCGH on uncultured cord blood or interphase FISH on cultured cord blood can be used for the diagnosis, in addition to conventional cytogenetics.
本研究旨在对 Pallister-Killian 综合征（PKS）进行分子细胞遗传学特征分析。
一位 37 岁的女性在妊娠 18 周时接受了羊膜穿刺术。羊膜穿刺术显示核型为 47,XY,+i(12)(p10)[6]/48,XY,+i(12)(p10)×2[1]/46,XY[6]。妊娠 20 周时再次进行了羊膜穿刺术。使用未培养的羊水细胞、脐带血和皮肤进行了 array 比较基因组杂交（aCGH）。使用未培养的羊水细胞和父母血液进行了定量荧光聚合酶链反应（QF-PCR）。使用未培养的羊水细胞和培养的刺激脐带血淋巴细胞进行了间期荧光原位杂交（FISH）分析。使用培养的羊水、皮肤、胎盘、脐带和脐带血细胞进行了常规细胞遗传学分析。
重复的羊膜穿刺术显示 12p 三体的镶嵌比例为 25%（10/40），培养的脐带血淋巴细胞没有镶嵌，培养的皮肤成纤维细胞的 12p 三体镶嵌比例为 52.5%（21/40），脐带成纤维细胞的 12p 三体镶嵌比例为 72.5%（29/40），胎盘细胞的 12p 三体镶嵌比例为 2.5%（1/40）。aCGH 分析显示，未培养的羊水细胞、皮肤和脐带血中基因剂量的增加分别为 log2 比值 0.9、0.7 和 0.7。未培养的羊水细胞的间期 FISH 显示镶嵌水平为 73.1%（49/67）（12p 三体：33；12p 六体：16）。刺激培养的脐带血淋巴细胞的间期 FISH 分析显示镶嵌水平为 58.3%（60/103）（12p 三体：51；12p 六体：9）。
在通过常规培养细胞遗传学诊断 PKS 时，与羊膜穿刺术相比，脐带血采样和胎盘采样更容易出现阴性结果。每当进行 PKS 的产前诊断时，除了常规细胞遗传学外，还可以使用未培养的脐带血的 aCGH 或培养的脐带血的间期 FISH。
