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1964年de Grouchy等首先报告智能发育障碍、侏儒症、特殊面容、肌张力低下、外耳道狭窄等17号或18号染色体长臂缺失的病例。以后Werteleck等在具有相同症状的病例中应用放射自显影技术确定为18号染色体长臂缺失。Schinzel等收集文献共50余例,我国尚未见报道,作者发现1例,现报告如下。患儿,女,13岁,主诉:容易疲劳,劳动时气促。7岁时发现有杂音,疑诊为先天性心脏病(主动瓣闭锁不全)。患儿系第4胎,足月顺产,出生体重3200g,
In 1964, de Grouchy et al. First reported cases of deformities such as dysthymic disorder, dwarfism, special facial features, low muscle tension, and narrowing of the external auditory meatus on the 17th or 18th chromosome. Later Werteleck and other applications in the case of the same symptoms using autoradiography identified as chromosome 18 long arm deletion. Schinzel and other literature collected a total of more than 50 cases, our country has not yet been reported, the authors found in 1 case, are as follows. Children, female, 13 years old, chief complaint: easy fatigue, shortness of breath when working. 7 years old found a noise, suspected congenital heart disease (active valve atresia). Children in the fourth child, full-term natural delivery, birth weight 3200g,