Chang Chia-Wei, Hsu Hui-Kuo, Kao Chiu-Ching, Huang Jyun-Yuan, Kuo Pao-Lin
Department of Obstetrics and Gynecology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
Cytogenetic Laboratory of the Department of Pathology, National Chen-Kung University Hospital and College of Medicine, Tainan, Taiwan.
Int J Gynaecol Obstet. 2014 Apr;125(1):18-21. doi: 10.1016/j.ijgo.2013.09.028. Epub 2014 Jan 2.
To identify Prader-Willi syndrome (PWS) and Angelman syndrome (AS) among fetuses with suspicious deletion of the chromosomal region 15q11-q13.
In a retrospective study, data were assessed from fetuses missing chromosomal band 15q12 that underwent molecular diagnosis at the National Chen-Kung University Hospital, Tainan, Taiwan, between January 2001 and December 2012. Amniocytes were subjected to molecular testing, including fluorescence in situ hybridization (FISH) analysis, methylation-specific PCR (M-PCR), and methylation-specific multiplex-ligation-dependent probe amplification (MS-MLPA).
During the 12-year study period, 26 041 amniocyte samples were analyzed at the study center and 27 (0.1%) were found to have a missing 15q12 band. A further 16 samples with a missing 15q12 band were received from other cytogenetic laboratories; as a result, 43 amniocyte samples lacking chromosomal band 15q12 underwent further molecular testing. Among these samples, 3 fetuses (7.0%) were found to have PWS (n=1) or AS (n=2).
A minority of cases with missing 15q12 had deletion of the PWS/AS critical region. This finding draws attention to the subtle structural rearrangements that occur on 15q11-q13 and provides useful information for prenatal diagnosis of PWS and AS.
在染色体区域15q11 - q13存在可疑缺失的胎儿中识别普拉德-威利综合征（PWS）和天使综合征（AS）。
在一项回顾性研究中，评估了2001年1月至2012年12月期间在台湾台南国立成功大学医院接受分子诊断的缺失染色体带15q12的胎儿的数据。对羊水细胞进行分子检测，包括荧光原位杂交（FISH）分析、甲基化特异性PCR（M-PCR）和甲基化特异性多重连接依赖探针扩增（MS-MLPA）。
在为期12年的研究期间，研究中心共分析了26041份羊水细胞样本，其中27份（0.1%）被发现缺失15q12带。另外从其他细胞遗传学实验室收到16份缺失15q12带的样本；因此，43份缺失染色体带15q12的羊水细胞样本接受了进一步的分子检测。在这些样本中，3例胎儿（7.0%）被发现患有PWS（n = 1）或AS（n = 2）。
少数15q12缺失的病例存在PWS/AS关键区域的缺失。这一发现引起了人们对15q11 - q13上发生的细微结构重排的关注，并为PWS和AS的产前诊断提供了有用信息。
