关键词: 染色体；, 易位, 遗传；, 染色体畸变；, 微阵列分析；, 染色体显带；, 产前诊断

Abstract: 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.

Key words: Chromosomes；, Translocation, genetic；, Chromosome aberrations；Microarray analysis；, chromosome banding；, Prenatal diagnosis