Emanuel综合征胎儿一例  

Fetal Emanuel syndrome:a case report

作　　者：徐玲玲 王振宇[1] 毛倩倩[1] 卢文波[1] Xu Lingling;Wang Zhenyu;Mao Qianqian;Lu Wenbo(Key Laboratory of Birth Defects,Ningbo Women and Children's Hospital,Ningbo 315002,China)

机构地区：[1]浙江省宁波市妇女儿童医院出生缺陷重点实验室,315002

出　　处：《中华围产医学杂志》2018年第12期822-824,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文报告了1例Emanuel综合征胎儿的产前诊断情况。1例孕妇于孕12周”B超提示颈项透明层厚度为3.3mm,孕24周^+2B超提示“胎儿生长受限,侧脑室增宽14mm、后颅窝增宽13mm、右侧多囊性发育不良肾、左侧双肾盂”。用G显带法分析胎儿及其父母的染色体核型,之后用单核苷酸多态性微阵列分析法对胎儿核型行进一步分析。G显带染色体核型分析显示,该胎儿的核型为47,XX,+mar,其父亲核型正常,其母亲核型为46,XX,t(11;22)(q23;q11.2)。胎儿羊水单核苷酸多态性微阵列分析结果提示其11q23.3-q25和22q11.1-q11.21存在重复区段,证实胎儿所携带的标记染色体为+der(22)t(11;22)(q23.3;q11.21),因此确诊为Emanuel综合征。经咨询,孕妇及家属选择终止妊娠。We hereby reported the prenatal diagnosis of a case of fetal Emanuel syndrome.At 12^+3 gestational weeks,ultrasound examination suggested that the fetal nuchal translucency thickness was 3.3mm.At 24^+2gestationalweeks,the fetus was found with growth restriction,lateral ventriculomegaly (14mm),broadened posterior cranial fossa (13mm),right multicystic dysplastic kidney and doubled left renal pelvis by ultrasound. Karyotyping of both the fetus and the parents was performed using G banding,and showed that the fetus was 47,XX,+mar,the father was normal,while the mother was 46,XX,t(11,22)(q23;q11.2).Single-nucleotide polymorphism-array of the fetal cells in amniotic fluid suggested that the fetus had a partial duplication of chromosomes 22and 11at 22q 11.1-q 11.21 and 11q23.3-q25 and carried a marker chromosome +der(22)t(11;22) (q23.3;q11.21),based on which the fetus was eventually diagnosed as Emanuel syndrome.The pregnancy was terminated after genetic consultation.

关 键 词：腭裂 心脏缺损 先天性 智力障碍 肌张力过低 染色体障碍 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]