3p26.3p25.3缺失患儿1例的临床表型与遗传学分析  

Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion

作　　者：石佳旻 陈尚勤[2] 鲁爱慧[3] 梁雅琴[1] 王楸[1] 卢朝升[1] 王丹[1] Shi Jiamin;Chen Shangqin;Lu Aihui;Liang Yaqin;Wang Qiu;Lu Chaosheng;Wang Dan;无(Department of Pediatrics,the First Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China;Department of Neonatology,the Second Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China;Department of Ultrasound Imaging,the First Af filiated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China)

机构地区：[1]温州医科大学附属第一医院儿科,温州325000 [2]温州医科大学附属第二医院新生儿科,温州325000 [3]温州医科大学附属第一医院超声影像科,温州325000

出　　处：《中华医学遗传学杂志》2023年第2期234-237,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(82171701);浙江省医药卫生科技计划(2022KY893);温州市科技计划(Y2020076)。

摘　　要：目的探讨1例特殊面容合并多发畸形患儿的遗传学病因并分析其与临床表型的相关性。方法选取2020年11月4日因"孕妇胎膜早破、双胎妊娠(双绒毛膜双羊膜囊)、妊娠期糖尿病"于孕34+6周自然分娩出生的1例患儿作为研究对象,应用常规G显带方法分析患儿的染色体核型,再用高通量测序法分析患儿拷贝数变异(CNVs)的情况。结果患儿为男性,顺产出生,表现为特殊面容、尿道下裂、隐睾、四肢肌张力低等。患儿染色体核型为46,XY,del(3)(p26),高通量测序结果提示染色体3p26.3-p25.3(60000-9860000)存在约9.80 Mb的缺失,共涉及33个蛋白编码基因。结论3p26.3p25.3缺失可能是患儿的致病原因,需对其进行持续随访,提高生存质量。ObjectiveeTo explore the genetic basis for a child with facial dysmorphism and multiple malformations.Methods The child,born at 34+6 week gestation due to premature rupture of amniotic membrane,dichorionic diamniotic twinning and gestational diabetes,,was subjected to chromosomal karyotyping analysis and copy number variations(CNVs)sequencing.Results The child was found to have facial dysmorphism,hypospadia,cryptorchidism and hypotonia.He was found to have a karyotype of 46,XY,del(3)(p26)in addition with a 9.80 Mb deletion(chr3:60000-9860000)which has involved 33 protein coding genes.Conclusion The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child.Continuous follow-up is required to improve his quality of life.

关 键 词：3p26.3p25.3缺失 SETD5基因 拷贝数变异 特殊面容 多发畸形 

分 类 号：R725.9[医药卫生—儿科]