Lai M M, Spencer J D, Montandon J A, Berry A C
SF Thames Regional Genetics Centre, Guy's Hospital, London.
J Med Genet. 1991 Jul;28(7):497-8. doi: 10.1136/jmg.28.7.497.
We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.
我们报告一例因母亲减数分裂错误导致的克兰费尔特综合征，该患者双侧伴有三指节拇指和三角指骨。此前尚无类似病例的报道，因此双侧拇指出现三指节畸形和三角指骨异常可能被视为这种非整倍体的另一种罕见表现。
