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染色体是遗传物质的载体,人类染色体异常可导致机体结构和功能异常的疾病。本文报告的1例由于第18号染色体长臂部分缺失所引起的疾病,简称18q~-综合征。此病女性患者较多,发病与母亲年龄无关。主要临床特征:智力障碍,全身多处发育不全,小头,声音低哑,75％的患儿有大而宽翻翘的咀唇或鲤鱼咀,50％耳道闭锁,唇裂、腭裂,斜视,眼内眦赘皮;先天性心脏疾患,马蹄肾,男性有隐睾症;指纹多为涡状纹等。
Chromosomes are carriers of genetic material and human chromosomal abnormalities can lead to diseases of the structure and function of the body. This article reports a case of 18th chromosome due to the lack of long arm caused by the disease, referred to as 18q ~ - syndrome. The disease is more female patients, the incidence has nothing to do with the mother’s age. The main clinical features: mental retardation, multiple hypoplasia of the whole body, small head, low voice, 75% of children with large and wide turned lips or carp mouth Tsui, 50% ear canal atresia, cleft lip, cleft palate, strabismus, Endocutaneous epicanthus; congenital heart disease, horseshoe kidney, male cryptorchidism; fingerprints and more for the vortex.