CAJ | 학술논문

12号染色体由1 30万个碱基编码的1100多个基因组成,占人类基因组的大约4.5％.12号染色体短臂三体综合征是一种罕见的染色体异常.其表现多具有特殊面容、低耳位、发育迟缓、肌张力低下等畸形.不同的染色体核型其畸变的发生和临床严重程度存在差别.
12호염색체유1 30만개감기편마적1100다개기인조성,점인류기인조적대약4.5％.12호염색체단비삼체종합정시일충한견적염색체이상.기표현다구유특수면용、저이위、발육지완、기장력저하등기형.불동적염색체핵형기기변적발생화림상엄중정도존재차별.
Encoding over 1100 genes within 132 million bases,chromosome 12 makes up about 4.5 ％ of the human genome.The short arm of chromosome 12 trisomy is a rare chromosomal abnormalities Which is performance of the multi-face with a special,low ear position,growth retardation,hypotonia.different occurrence of aberrations of chromosome karyotype and clinical severity and there is a differenee.