Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R
Maternal-Fetal Medicine, Long Island Jewish Medical Center, New Hyde Park, New York, USA.
Am J Med Genet. 2000 Oct 2;94(4):284-6. doi: 10.1002/1096-8628(20001002)94:4<284::aid-ajmg4>3.0.co;2-m.
We report on a fetus with placental trisomy 16, maternal uniparental disomy (UPD), and body stalk anomaly. Body stalk anomaly is a rare, fatal developmental abnormality consisting of a defective abdominal wall with abdominal organs in a sac outside the abdominal cavity covered by amnion adherent to the placenta with absence or severe shortness of the umbilical cord. Trisomy 16 was identified in the placenta in all cells. Amniocentesis was karyotypically normal. Parental origin studies showed maternal UPD for chromosome 16 in post-termination fetal tissue. The cause of the body stalk anomaly is not clearly defined. There are no other reports of placental karyotype or UPD investigations with body stalk anomaly. To our knowledge, this is the first report of placental trisomy 16, UPD in fetus, and body stalk anomaly, suggesting placental insufficiency or imprinting effects as cause of this anomaly. Am. J. Med. Genet. 94:284-286, 2000.
我们报告了一例患有胎盘16三体、母体单亲二体（UPD）和体蒂异常的胎儿。体蒂异常是一种罕见的致命性发育异常，其特征为腹壁缺陷，腹腔内器官位于羊膜覆盖的腹腔外囊袋中，羊膜附着于胎盘，脐带缺如或严重缩短。在胎盘的所有细胞中均检测到16三体。羊水穿刺染色体核型正常。亲代来源研究显示，终止妊娠后胎儿组织中存在16号染色体的母体UPD。体蒂异常的病因尚不清楚。目前尚无其他关于体蒂异常的胎盘核型或UPD研究报告。据我们所知，这是首例关于胎盘16三体、胎儿UPD和体蒂异常的报告，提示胎盘功能不全或印记效应可能是该异常的病因。《美国医学遗传学杂志》94:284 - 286，2000年。
