1例inv(9)(p12q13),der(12)del(12)(p13.3)dup(12)(p13.3p11.1)伴胎儿多发畸形的遗传学分析  

Genetic analysis of a fetus with multiple malformations and a inv(9)(p12q13),der(12)del(12)(p13.3)dup(12)(p13.3p11.1)

作　　者：钟银环[1] 黄伟伟[1] 陈汉彪[1] 许芳梅 郭莉[1] Zhong Yinhuan;Huang Weiwei;Chen Hanbiao;Xu Fangmei;Guo Li(Medical Genetic Center,Guangdong Women and Children Hospital,Guangzhou 511442,Guangdong,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第4期59-62,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的对1例超声发现第三脑室后方无回声声像、心脏增大的胎儿进行临床、细胞遗传学与分子遗传学分析,以明确其可能的遗传学病因。方法对胎儿进行影像学检查,抽取胎儿的脐带血细胞进行G显带染色体核型分析、单核苷酸多态性微阵列检测(single nucleotide polymorphism array,SNP array)。结果超声提示胎儿二尖瓣、三尖瓣轻度反流,心胸面积比增大,核磁共振成像显示胎儿大脑皮质发育异常,符合多小脑回畸形改变,胎儿脐血染色体核型为46,XX,inv(9)(p12q13),der(12)del(12)(p13.3)dup(12)(p13.3p11.1),SNP array结果为arr[hg19]12p13.33(173,786-1,169,700)×1,12p13.33p11.1(1,169,859-34,835,641)×3。结论该胎儿为完全12p三体综合征,12p13.33区段的缺失及12p13.33p11.1区段的重复为该胎儿的遗传学病因。胎儿大脑发育异常,多小脑回畸形改变拓展了12p三体的表型谱。Objective To explore the genetic etiology for a fetus with multiple malformations.Methods Imaging examination was performed on the fetus,and umbilical cord blood cells were extracted for G banding karyotype analysis and single nucleotide polymorphism array.Results Ultrasonography indicated mild mitral and tricuspid regurgitation and increased cardiothoracic area ratio.MRI showed abnormal development of cerebral cortex.Chromosomal karyotyping showed that 46,XX,inv(9)(p12q13),der(12)del(12)(p13.3)dup(12)(p13.3p11.1),SNP array showed that arr[hg19]12p13.33(173,786-1,169,700)×1,12p13.33p11.1(1,169,859-34,835,641)×3.Conclusion The fetus was diagnosed with complete trisomy 12P syndrome.for which the deletion in 12p13.33 and duplication in 12p13.33p11.1 are probably the cause.Abnormal fetal brain development and polycerebellar gyrus changes extend the phenotype of trisomy 12P.

关 键 词：12p三体综合征 心脏异常 多小脑回畸形 遗传学分析 

分 类 号：R714.55[医药卫生—妇产科学]