Genetic features of a case with mosaic ring chromosome 4 and a review of the literature
马灿玲 1王盈盈 1甄娜 2邵长喜 1张道玲 1蒋艳 2杜宇 1贾颐舫 3李岭
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作者信息
1. 1滕州市妇幼保健院检验科，滕州 277599
2. 2滕州市妇幼保健院医学遗传与产前咨询科，滕州 277599
3. 3山东第一医科大学附属省立医院产前诊断中心，济南 250022
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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(68 345-2 981 614)×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(68 345-2 981 614)×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.
Abstract
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(68 345-2 981 614)×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.
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