论文部分内容阅读
Down综合征(简称DS)即先天愚型、21-三体综合征,是常见的染色体病,也是小儿先天性智力低下最常见的原因之一。我院1984年以来,在出生缺陷监测中,根据典型或可疑面容及有关体征结合染色体检查,共诊断新生儿DS 21例,现报道如下。临床资料和分析诊断依据20例经外周血染色体核型(G带)证实。1例外周血污染,家属拒绝重做。随访至1岁半,呈典型面容、流诞、伸舌、不会站立、不认陌生,仅会模仿喊爹妈。
Down syndrome (DS) that is Down’s syndrome, 21-trisomy syndrome, is a common chromosomal disease, but also one of the most common causes of congenital mental retardation in children. Our hospital since 1984, in the monitoring of birth defects, based on typical or suspicious face and related signs of chromosomal examination, a total of 21 cases of neonatal DS, are reported below. Clinical data and analysis of diagnosis based on 20 cases of peripheral blood karyotype (G band) confirmed. One case of peripheral blood contamination, family refused to redo. Followed up to 1 year and a half, a typical face, Christmas, Tongue, will not stand, does not recognize unfamiliar, will only imitate call father and mother.