全基因组芯片技术产前诊断父源性20p部分三体和2q部分单体胎儿一例  

Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology

作　　者：张磷[1] 任梅宏[1] 宋桂宁[1] 刘雪霞[1] 王建六[1] 张晓红[1] 

机构地区：[1]北京大学人民医院产前诊断中心,100044

出　　处：《中华医学遗传学杂志》2016年第6期820-823,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1例超声提示多发脏器结构畸形胎儿进行产前诊断，为其家系提供遗传咨询。方法通过羊水穿刺行常规染色体核型分析和全基因组芯片技术对胎儿进行产前诊断。应用高分辨染色体技术对胎儿父母进行染色体核型分析。结果超声提示胎儿宫内生长发育受限（孕28＋4超声孕周仅为26＋4周）、左肾缺如、右肾发育不良、室间隔缺损、羊水偏多、消化道梗阻等。羊水常规染色体核型分析结果显示胎儿染色体核型为46，XY，der（2），der（20），t（2；20）（q37．3；p12．2），t（5；15）（q12．2；q25）pat，基因芯片结果证实胎儿2q37．3区段存在5．283Mb的缺失和20p13p12．2区段存在11．641Mb的重复，为染色体缺失／重复综合征患儿。高分辨染色体核型分析结果显示，胎儿父亲染色体核型为46，XY，t（2；20）（q37．3；p12．2），t（5；15）（q12．2；q25），母亲染色体核型为46，XX；胎儿遗传了父亲非平衡配子而致多发畸形。结论胎儿的异常表型与染色体微缺失和微重复相关。胎儿父亲为2号和20号、5号和15号4条染色体复杂易位携带者，母亲自然妊娠生育正常儿的概率极低，建议通过胚胎植入前遗传学诊断或供精辅助生殖技术以避免染色体异常患儿的出生。Objective To perform prenatal diagnosis for a fetus with multiple malformations. Methods The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis. Results Fetal ultrasound at 28＋4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der （2）, der（20）, t（2320） （q37.33 p12.2）, t（5315） （q12.23 q25） pat. SNP array analysis confirmed that the fetus has a 5. 283 Mb deletion at 2q37. 3 and a 11. 641 Mb duplication at 20p13p12. 2. High-resolution chromosome analysis suggested that the father has a karyotype of 46, XY, t（2320）（q37.33p12.2）, t（5315） （q12.23q25）, while the mother has a normal karyotype. Conclusion The abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.

关 键 词：染色体复杂易位 复发性自然流产 产前诊断 多发畸形 微缺失/微重复综合征 

分 类 号：R714.53[医药卫生—妇产科学]