We described a new second case of fetoplacental discrepancy involving first trimester prenatal detection of mosaic isochromosome i (8) (q10). A 32-year-old woman underwent chorionic villous sampling because of increased fetal nuchal translucency. Analysis of direct chromosome preparations was performed by R-banding and FISH using subtelomeric, centromeric and whole chromosome painting probes for chromosome 8 showing the presence of an isochromosome 8q with a complex, female mosaic karyotype: mos 46,XX,i (8) (q10)[13]/46,XX,del (8) (p23)[10]. Cytogenetic analysis of cultured CVS showed an interstitial duplication with concomitant terminal deletion of the short arm of chromosome 8: 46,XX,der (8)del (8) (p23)dup (8) (p?)[18]. Array-CGH analysis from cultured trophoblasts and fetal tissues revealed a 6.69 Mb terminal deletion in 8p23.3p23.1 associated with a 31.49 Mb duplication in 8p23.1p11.1. FISH analysis confirmed the 8p inverted duplication deletion syndrome. Moreover, polymorphic DNA marker analysis demonstrated that the derivative chromosome 8 was of maternal origin. FISH analysis of cultured peripheral blood lymphocytes showed that the mother also carried a cryptic paracentric inversion inv (8) (p23). Our report contributes to expand the fetal phenotype of 8p inverted duplication deletion syndrome and also provides further insight into the underlying mechanism of this rare genomic disorder.

我们描述了新的第二例胎盘胎盘不全，其中包括妊娠早期的马赛克异染色体i（8）（q10）的产前检测。一名32岁妇女因胎儿颈部半透明性增加而接受绒毛膜绒毛取样。使用R显带和FISH使用8号染色体的亚端粒，着丝粒和全染色体绘画探针对直接染色体制备物进行分析，结果表明存在具有复杂雌性镶嵌核型的等染色体8q：mos 46，XX，i（8）（ q10）[13] / 46，XX，del（8）（p23）[10]。培养的CVS的细胞遗传学分析显示出间质重复，伴随着第8号染色体短臂的末端缺失：46，XX，der（8）del（8）（p23）dup（8）（p？）[18]。来自培养的滋养细胞和胎儿组织的Array-CGH分析显示8p23.3p23中有6.69 Mb末端缺失。1与8p23.1p11.1中的31.49 Mb重复相关。FISH分析证实了8p反向重复缺失综合征。此外，多态性DNA标记分析表明，衍生染色体8是母亲来源的。FISH对培养的外周血淋巴细胞的分析表明，母亲也携带了一种隐性的副中心倒置inv（8）（p23）。我们的报告有助于扩大8p反向复制缺失综合征的胎儿表型，并且还提供了对该罕见基因组疾病的潜在机制的进一步了解。FISH对培养的外周血淋巴细胞的分析表明，母亲也携带了一种隐性的副中心倒置inv（8）（p23）。我们的报告有助于扩大8p反向复制缺失综合征的胎儿表型，并且还提供了对该罕见基因组疾病的潜在机制的进一步了解。FISH对培养的外周血淋巴细胞的分析表明，母亲也携带了一种隐性的副中心倒置inv（8）（p23）。我们的报告有助于扩大8p反向复制缺失综合征的胎儿表型，并且还提供了对该罕见基因组疾病的潜在机制的进一步了解。