嵌合型4号环状染色体患儿1例的遗传学分析  

Genetic features of a case with mosaic ring chromosome 4 and a review of the literature

作　　者：马灿玲[1] 王盈盈[1] 甄娜[2] 邵长喜[1] 张道玲[1] 蒋艳[2] 杜宇 贾颐舫 Ma Canling;Wang Yingying;Zhen Na;Shao Changxi;Zhang Daoling;Jiang Yan;Du Yu;Jia Yifang(Department of Laboratory Medicine,Tengzhou Maternal and Child Health Care Hospital,Tengzhou,Shandong 277599,China;Department of Medical Genetics and Prenatal Counseling,Tengzhou Maternal and Child Health Care Hospital,Tengzhou,Shandong 277599,China;Prenatal Diagnosis Center,Provincial Hospital Affiliated to Shandong First Medical University,Jinan,Shandong 250022,China)

机构地区：[1]滕州市妇幼保健院检验科,滕州277599 [2]滕州市妇幼保健院医学遗传与产前咨询科,滕州277599 [3]山东第一医科大学附属省立医院产前诊断中心,济南250022

出　　处：《中华医学遗传学杂志》2023年第1期105-109,共5页Chinese Journal of Medical Genetics

摘　　要：目的探讨1例嵌合型4号环状染色体患儿核型的成因、临床表型及发病机制。方法选取2020年2月15日于滕州市妇幼保健院就诊的1例嵌合型4号环状染色体患儿为研究对象。收集患儿的临床资料,对其进行外周血染色体G显带核型分析、染色体微阵列分析(CMA)、荧光原位杂交(FISH)检测,并对文献进行回顾。结果患儿为足月小样低体重儿,具有特殊面容、动脉导管未闭、室间隔缺损。外周血染色体核型为mos 46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)×2[3]/46,XY,r(4)(p1?q2?)[2];CMA检测结果为arr[GRCh37]4p16.3(68345-2981614)×1;FISH检测结果为45,XY,-4[12]/45,XY,-4×2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1×2.ishr1(4)(WHS-,D4Z1+)×2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9]。结论患儿的4号环状染色体为新发变异,在胚胎发育过程中产生了多种细胞系,形成同源嵌合体。4号环状染色体综合征临床表型多变,与其本身的不稳定性、是否存在嵌合体核型、是否伴有缺失/重复及其范围等有关。Objective To explore the genetic basis,clinical phenotype and pathogenesis for a child with mosaicism ring chromosome 4.Methods Clinical data of the child was collected.Peripheral blood chromosomal karyotype G banding analysis,chromosomal microarray analysis(CMA),fluorescence in situ hybridization(FISH)were carried out for the child,in addition with a review of the literature.Results The child was born full-term with low birth weight,facial dysmorphism,patent ductus arteriosus and ventricular septal defect.His karyotype was determined as mos46,XY,r(4)(p16.3q35.2)[259]/45,XY,-4[25]/47,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)[8]/46,XY,der(4)del(4)(p16.3)inv(4)(p16.3q31.1)[6]/46,XY,dic?r(4;4)(p16.3q35.2;p16.3q35.2)[4]/48,XY,r(4)(p16.3q35.2),+r(4)(p16.3q35.2)×2[3]/46,XY,r(4)(p1?q2?)[2];CMA results was arr[GRCH37]4p16.3(68345-2981614)×1;FISH results was 45,XY,-4[12]/45,XY,-4×2,+mar1.ish r1(4)(WHS-,D4Z1+)[1]/46,XY,-4,+mar1.ishr1(4)(WHS-,D4Z1+)[73]/46,XY,-4,+mar2.ishr2(4)(WHS-,D4Z1++)[1]/47,XY,-4,+mar1×2.ishr1(4)(WHS-,D4Z1+)×2[4]/46,XY,del(4)(p16.3).ish del(4)(p16.3)(WHS-,D4Z1+)[9].Conclusion In this case,the ring chromosome 4 as a de novo variant has produced a number of cell lines during embryonic development and giren rise to mosaicism.The clinical phenotype of ring chromosome 4 is variable.The instability of the ring chromosome itself,presence of mosaicism,chromosome breakpoint and range of deletion and/or duplication may all affect the ultimate phenotype.

关 键 词：4号环状染色体 嵌合体 足月小样低体重儿 染色体核型分析 染色体微阵列分析 荧光原位杂交 

分 类 号：R725.9[医药卫生—儿科]