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首页> 外文期刊>Case Reports in Genetics >Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta
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Fetoplacental Discrepancy with Normal Karyotype in Amniotic Fluid and Two Different Cell Lines in Placenta

机译：羊水和两个不同胎盘细胞株的核型正常的胎盘胎盘差异

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We present a case of fetoplacental discrepancy in a second-trimester fetus with normal karyotype in amniotic fluid and two different Robertsonian translocations in placenta. A 41-year-old woman of Middle-Eastern origin, gravida 2, para 1, underwent amniocentesis at 16-week gestation because of advanced maternal age. Amniotic fluid karyotype showed a normal 46,XX karyotype with a homozygous inv(9). Parental chromosome analysis showed both parents to be carriers of inv(9) and the parents are not consanguineous. Fetal ultrasound was normal. The mother presented to the clinic 4 weeks later with intrauterine fetal demise. Chromosome analysis from the placenta showed two different cell lines: a balanced (15;21) Roberstonian translocation in 11 cells and an unbalanced (21;21) Robertsonian translocation in 9 cells. The karyotype was interpreted as mos 45,XX,inv(9)(p11q13)x2,der(15;21)(q10;q10)[11]/46,XX,inv(9)(p11q13)x2,+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.
机译：我们目前在羊水中期核型正常且胎盘中有两种不同的罗伯逊易位的胎儿中胎位差异。一名来自中东的孕妇41岁，孕妇gravida 2，第1段，由于孕妇年龄较大，在妊娠16周时进行了羊膜穿刺术。羊水核型显示正常的46，XX核型，具有纯合的inv（9）。父母染色体分析显示，父母双方都是inv（9）的携带者，父母不是近亲的。胎儿超声检查正常。母亲在4周后宫内胎儿死亡后就诊。胎盘的染色体分析显示了两种不同的细胞系：11个细胞中的平衡（15; 21）罗伯斯顿易位和9个细胞中的不平衡（21; 21）罗伯逊易位。核型被解释为mos 45，XX，inv（9）（p11q13）x2，der（15; 21）（q10; q10）[11] / 46，XX，inv（9）（p11q13）x2，+ 21， der（21; 21）（q10; q10）。母亲是囊性纤维化（δF508），因子V Leiden突变，HbD-Los Angeles和HbQ-India变体的携带者。她也有一个死产的兄弟姐妹。她丈夫的病史并不明显。我们的病例似乎是胎儿核型正常的局限性胎盘镶嵌症（CPM）的另一个例子。但是，鉴于母亲的病史复杂，我们无法确定CPM在本案中为IUFD做出贡献的可能性。

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