Gosden C M, Wright M O, Paterson W G, Grant K A
J Med Genet. 1976 Oct;13(5):371-80. doi: 10.1136/jmg.13.5.371.
A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.
一名69,XXX的三倍体胎儿在妊娠26周时自然流产。它有多种异常，包括手足并指（趾）、单一掌纹、肾上腺和卵巢发育不全、大腿肌肉肥大以及脑部异常。胎盘很大，呈现出葡萄胎样变性。此次妊娠并发了急性呼吸困难、先兆子痫和产后出血。对胎儿及其父母进行了详细的细胞遗传学研究，采用了显带和荧光技术。对胎儿卵巢进行了减数分裂研究。检查了培养的皮肤成纤维细胞的肌肉细胞分化和电生理关系，试图研究额外的单倍体染色体组对表型产生影响的方式。讨论了晚期三倍体的产前诊断。25%的晚期三倍体有脊柱裂这一发现进一步证明脊髓脊膜膨出有遗传成分，并强烈表明这是由染色体失衡或调节基因紊乱导致的。
