ty -jour a2 -julier,C。A2 -Dewan,A.A2 -Sazci,A.Au -Ortega,Veronica au -Mendiola -Mendiola,Mendiola,Christina au -Williamson,Eric Au -Higby -Higby,Kenneth au -Velagaleti,velagaleti,Gopalrao V. N. Py -2013DA - 2013/06/13 Ti-羊水差异羊流质差异在羊水中与正常的核型和胎盘SP -951710 VL -2013 AB中的两种不同的细胞系 - 我们介绍了一种胎儿阶段性差异的案例,在第二多个诊断胎儿中具有正常的Karyottype中的胎儿差异。胎盘中的流体和两种不同的罗伯逊主义易位。一名41岁的中东起源的妇女,Gravida 2,第1段,由于高级母亲的年龄,在16周妊娠时进行了羊膜穿刺术。羊水核型显示出正常的46个XX核型,具有纯合INV(9)。父母染色体分析表明,父母双方都是Inv的携带者(9),父母并不近亲。胎儿超声正常。母亲在四个星期后出现在诊所内胎儿胎儿灭亡。胎盘的染色体分析显示了两种不同的细胞系:11个细胞中的Roberstonian易位(15; 21),在9个细胞中一个不平衡的Robertsonian易位(21; 21)。核型被解释为MOS 45,XX,INV(9)(P11Q13)X2,DER(15; 21)(Q10; Q10; Q10)[11]/46,xx,Inv(9)(P11Q13)X2,+21,+21,+21,der(21; 21)(Q10; Q10)。 Mother was a carrier for the Cystic Fibrosis (delta F508), Factor V Leiden mutations, HbD-Los Angeles and HbQ-India variants. She also had a sibling with term stillbirth. Her husband’s history was unremarkable. Our case appears to be another example of confined placental mosaicism (CPM) with normal fetal karyotype. However, we could not confirm the possibility that CPM contributed to the IUFD in our case given the complex medical history of the mother. SN - 2090-6544 UR - https://doi.org/10.1155/2013/951710 DO - 10.1155/2013/951710 JF - Case Reports in Genetics PB - Hindawi Publishing Corporation KW - ER -