6q26q27微重复合并15q26.3微缺失一个家系的遗传学分析

Genetic analysis of a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion

目的对1个6q26q27微重复合并15q26.3微缺失的家系进行遗传学分析。方法选取2021年1月在温州医科大学附属第一医院就诊的1例6q26q27微重复合并15q26.3微缺失的胎儿及其家系成员为研究对象。收集胎儿的临床资料,对胎儿及其父母进行G显带染色体核型分析和染色体微阵列分析(CMA),对其外祖父母进行核型分析。结果产前超声提示胎儿宫内生长发育迟缓。胎儿及其家系成员的核型分析均未见异常。CMA检测提示胎儿携带染色体6q26q27区6.6 Mb的片段重复以及15q26.3区1.9 Mb的片段缺失,其母亲携带相同区域6.49 Mb的重复和1.867 Mb的缺失,其父亲未见异常。结论染色体6q26q27微重复和15q26.3微缺失可能是本例胎儿生长发育迟缓的遗传学病因。

Objective To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion.Methods A fetus with a 6q26q27 microduplication and a 15q26.3 microdeletion diagnosed at the First Affiliated Hospital of Wenzhou Medical University in January 2021 and members of its pedigree were selected as the study subject.Clinical data of the fetus was collected.The fetus and its parents were analyzed by G-banding karyotyping and chromosomal microarray analysis(CMA),and its maternal grandparents were also subjected to G-banding karyotype analysis.Results Prenatal ultrasound had indicated intrauterine growth retardation of the fetus,though no karyotypic abnormality was found with the amniotic fluid sample and blood samples from its pedigree members.CMA revealed that the fetus has carried a 6.6 Mb microduplication in 6q26q27 and a 1.9 Mb microdeletion in 15q26.3,and his mother also carried a 6.49 duplication and a 1.867 deletion in the same region.No anomaly was found with its father.Conclusion The 6q26q27 microduplication and 15q26.3 microdeletion probably underlay the intrauterine growth retardation in this fetus.