Chen Chih-Ping, Yin Chang-Sheng, Wang Liang-Kai, Chern Schu-Rern, Chen Shin-Wen, Lai Shih-Ting, Wu Peih-Shan, Chen Wen-Lin, Wang Wayseen
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Kang-Ning General Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2017 Jun;56(3):390-393. doi: 10.1016/j.tjog.2017.04.024.
We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS).
A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3.749-Mb deletion at 20p13-p12.3 and a 1.84-Mb deletion at 20p12.2 encompassing the gene of JAG1. The parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. The fetus postnatally manifested characteristic facial features of ALGS. Postnatal molecular cytogenetic analysis of fetal tissues confirmed the prenatal diagnosis. Polymorphic DNA marker analysis revealed a paternal origin of the deletion.
A de novo interstitial 20p deletion can be caused by a paternal effect. Pregnancy with a fetus affected with ALGS may be associated with an abnormal result of combined first-trimester screening and manifest no detectable ultrasound abnormalities.
我们报告了一例20号染色体短臂（20p12 - p13）新发间质性缺失的产前诊断及分子遗传学特征，并对阿拉吉耶综合征（ALGS）的产前诊断进行文献综述。
一名33岁女性因孕早期联合筛查结果异常，于妊娠17周时接受了羊水穿刺。其丈夫35岁，无先天性畸形家族史。羊水穿刺显示核型为46,XY,del(20)(p12p13)，对未培养羊水细胞进行的阵列比较基因组杂交分析显示，20p13 - p12.3处有一个3.749 Mb的缺失，20p12.2处有一个1.84 Mb的缺失，包含JAG1基因。父母的核型正常。产前超声检查结果无异常。该胎儿出生后表现出ALGS的特征性面部特征。对胎儿组织进行的产后分子细胞遗传学分析证实了产前诊断。多态性DNA标记分析显示该缺失源自父亲。
新发20p间质性缺失可能由父源效应引起。怀有受ALGS影响胎儿的妊娠可能与孕早期联合筛查结果异常相关，且未发现可检测到的超声异常。
