Marks K, Hill L, Chitham R G, Whitehouse W L
J Med Genet. 1985 Aug;22(4):316-8. doi: 10.1136/jmg.22.4.316.
An interstitial deletion in chromosome 7(p13p15) detected in amniotic fluid cells is presented. After termination, the fetus was noted to have an asymmetrical skull, low set ears, a flattened nose, bifid thumbs and right big toe, pyloric adenomyosis, hypospadias, and simian creases. A brief comparison is made with previously reported cases involving deletions of 7p, including those associated with craniosynostosis.
本文报告了在羊水细胞中检测到的7号染色体(p13p15)间质性缺失。终止妊娠后,发现胎儿有不对称颅骨、低位耳、扁平鼻、双拇指和右大脚趾、幽门腺肌病、尿道下裂和猿线。本文还与先前报道的涉及7p缺失的病例进行了简要比较,包括那些与颅缝早闭相关的病例。