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目的探讨首例X/Y染色体间不平衡易位男性患儿的临床特征。方法分析1例X/Y染色体间不平衡易位患儿的临床表现、微阵列比较基因组杂交(array-CGH)以及染色体G显带结果,综合文献复习,探讨该类患者的临床特征。结果以运动发育迟缓、精神发育迟滞、房间隔缺损等为主要临床表现的男性患儿,其染色体核型为46,X,der(Y)t(X;Y)(p22.2;q11.22)de novo。结论 X/Y染色体间的不平衡易位极为罕见,主要表现为生长发育迟缓、心脏损伤等,无明显特异性。通过array-CGH技术可以提高染色体病在产前诊断中的检出率,能够发现更准确的遗传病因,提高不明原因精神运动发育迟缓的分子诊断水平。
Objective To investigate the clinical features of the first male X-Y imbalance translocation. Methods The clinical manifestations, array-CGH and G-banding of chromosomes in 1 case of X / Y chromosome imbalance translocation were analyzed. The clinical features of these patients were reviewed through literature review. Results Male children with major clinical manifestations of motor retardation, mental retardation and atrial septal defect had a karyotype of 46, X chromosome (k), der (Y) t (X; Y) (p22.2; q11.22 de novo. Conclusion Unbalanced translocations of X / Y chromosomes are extremely rare, mainly showing growth retardation, heart damage, etc. There is no obvious specificity. By array-CGH technology can improve the detection rate of chromosomal diseases in prenatal diagnosis, to find more accurate genetic causes, to improve the molecular diagnosis of unexplained mental retardation.