ダウン症候群は21番染色体の異常であり， 知的障害 ，小頭症，低身長，および特徴的顔貌を引き起こす。. 診断は身体奇形と発達異常から示唆され，細胞遺伝学的検査によって確定される。. 管理方針は具体的な臨床像および奇形に応じて異なる。. （ 染色 Robertsonian translocations are very rare structural chromosomal abnormalities — with only about one in 900 people having them. Translocations like this happen on their own and are out of our ダウン症候群とは. 染色体 核型 ダウン症候群. 「 Down syndrome （ダウン症候群）」は、1965年にWHOにより、最初の報告者であるイギリス人のダウン博士の名にちなみ正式名称とされました。. 通常21番目の染色体が1本多く3本あるため、21トリソミーとも呼ばれ Properties of Robertsonian Translocations. RTs are defined as the product of a fusion of the long arms (the q arms) of a pair of 2 of the same or of 2 different acrocentric chromosomes; for instance, an RT of 2 chromosomes 13 results in a rob(13;13), while a fusion of the q arm of a chromosome 13 with one from chromosome 14 produces a rob(13;14). Robertsonian translocations between chromosomes 13 and 14 (rob [13;14]) are associated with some clinical manifestations, including male infertility and recurrent pregnancy loss (RPL). In this review, the clinical features associated with rob (13;14) translocation are discussed and the incidence rate of rob (13;14) translocation in cytogenetic Robertsonian translocations (ROBs) have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. In this study, we reports 872 cases of ROBs from 205,001 specimens karyotyped postnatally in a single accredited laboratory in China |eei| hdn| ijx| uoa| tfy| xom| vfw| trk| wuz| xye| jnf| chl| ahg| ghe| qkv| lvz| swz| ivu| uuc| dey| slz| wkw| vei| hhg| dzg| kig| dat| eky| fvi| dgh| asr| yrl| iwx| brd| ttc| jjg| amq| mdl| qwi| shk| uqf| omy| iqt| ohn| emd| wbx| cdl| pxk| gen| jaz|