Van Allen M I, Ritchie S, Toi A, Fong K, Winsor E
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Am J Med Genet. 1993 Apr 15;46(2):193-7. doi: 10.1002/ajmg.1320460219.
We report on an 18-week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, anal atresia, oligosyndactyly, cystic hygroma, and skeletal abnormalities with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17-year-old G3 P1 TAB1 woman with sickle cell trait. Trisomy 4 conceptuses usually miscarry in the first trimester. We are aware of no other reports of a fetus with trisomy 4 and cyclopia. Causal association of chromosome abnormalities and holoprosencephaly sequence may be more apparent in embryos and early fetuses than term fetuses because of poor viability of affected conceptuses.
我们报告了一例18周龄的胎儿，患有独眼畸形、叶状全前脑畸形、复杂先天性心脏缺陷、肛门闭锁、少指（趾）畸形、囊状水瘤和4号染色体三体相关的骨骼异常。一名患有镰状细胞性状的17岁G3 P1 TAB1孕妇在孕期常规超声检查时发现了结构异常。4号染色体三体的胚胎通常在孕早期流产。我们未发现其他关于4号染色体三体胎儿合并独眼畸形的报道。由于受影响胚胎的存活率低，染色体异常与全前脑序列的因果关联在胚胎和早期胎儿中可能比足月胎儿中更明显。
