Bianchi D W, Wilkins-Haug L E, Enders A C, Hay E D
Division of Genetics, Children's Hospital, Boston, Massachusetts.
Am J Med Genet. 1993 Jun 15;46(5):542-50. doi: 10.1002/ajmg.1320460517.
Confined chorionic mosaicism, a discordance in the karyotype between the fetus and placenta, occurs in 1% of chorionic villus sampling (CVS) cases. While the cytogenetic discrepancies occurring between different fetal tissues may pose clinical dilemmas, they can also be viewed as a natural experiment to determine early cell lineage relationships in the human. We reviewed extensive data in experimental animals to define the origin of the human extraembryonic mesoderm. The extraembryonic mesoderm in humans is an important component of the CVS culture preparation. Previously, the extraembryonic mesoderm was thought to originate in the cytotrophoblast or primitive streak. More recent evidence supports its origin from the yolk sac, which does not always correlate with the fetal karyotype. We formulated a model of early human cell lineage and employed it to clarify clinical cases of chorionic mosaicism in two large published studies.
局限性绒毛膜镶嵌现象，即胎儿与胎盘之间核型不一致，发生于1%的绒毛取样（CVS）病例中。虽然不同胎儿组织之间出现的细胞遗传学差异可能带来临床困境，但它们也可被视为一项确定人类早期细胞谱系关系的自然实验。我们回顾了实验动物的大量数据，以确定人类胚外中胚层的起源。人类的胚外中胚层是CVS培养准备的重要组成部分。以前，胚外中胚层被认为起源于细胞滋养层或原条。最近的证据支持其起源于卵黄囊，而这并不总是与胎儿核型相关。我们构建了一个人类早期细胞谱系模型，并在两项已发表的大型研究中运用该模型来阐明绒毛膜镶嵌现象的临床病例。
