Xp/Yq染色体间不平衡易位的临床遗传学特征分析

Clinical Genetic Characteristics of Imbalanced Translocation between Xp/Yq Chromosomes

目的:探讨Xp/Yq染色体间不平衡易位胎儿的临床遗传学特征。方法:联合应用染色体核型分析及染色体微阵列分析对胎儿及其相关家族成员进行产前诊断。结果:胎儿染色体核型为46,Y,der(X)t(X;Y)(p22.3;q11.22),Xp22.33-p22.31位置发生缺失,Yq11.221-q11.23位置发生重复。父亲染色体核型正常,母亲染色体核型为46,X,der(X)t(X;Y)(p22.3;q11.22),胎儿哥哥与胎儿结果一致。结论:胎儿异常染色体来源为母源性,女性患者多数除了身材矮小没有其他临床表现,而男性患者常出现比较明显的连续基因综合征的复杂表型。联合应用染色体核型及染色体微阵列分析可为产前诊断提供更全面准确的遗传学依据,明确遗传病因,指导生育。

Objective:To investigate the clinical genetic characteristics of imbalanced translocation between Xp/Yq chromosomes.Methods:The imbalanced translocation between Xp/Yq chromosomes was analyzed by chromosome karyotype and chromosomal microarray.The cytogenetic analysis was also performed in members of relevant family.Results:Chromosomal microarray analysis(CMA)and karyotype analysis confirmed the 46,Y,der(X)t(X;Y)(p22.3;q11.22)with the lack of Xp22.33-p22.31 and the repeat of Yq11.221-q11.23.The karyotype of the father is normal,while the karyotype of the mother is 46,X,der(X)t(X;Y)(p22.3;q11.22).The results of the elder brother were consistent with those of the fetus.Conclusions:The abnormal chromosome of this fetus is maternal,most of the female patients could have no more clinical manifestations except short stature,while male patients often have the complex clinical phenotypes of Xp contiguous gene syndrome.The combined application of chromosome karyotype and chromosomal microarray analysis can provide more comprehensive and accurate genetic basis for prenatal diagnosis,clarify the genetic etiology,and guide the fertility.