猫眼综合征合并小肠和大肠神经节细胞缺失症
Cat eye syndrome associated with aganglionosis of the small and large intestine.
作者信息
Ward J, Sierra I A, D'Croz E
机构信息
Sección de Genética Clínica, Complejo Hospitalario Metropolitano de la Caja de Seguro Social, Panamá.
出版信息
J Med Genet. 1989 Oct;26(10):647-8. doi: 10.1136/jmg.26.10.647.
Abstract
A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.
摘要
一名男婴表现出猫眼综合征的典型表型，伴有一条小于22号染色体的小额外染色体。他的小肠和大肠完全缺乏副交感神经节细胞。
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