摘要
目的对2例携带．dic（Y）（p）女性表型的性发育异常患者进行遗传学分析，探讨其临床表现与核型的相关性。方法应用常规染色体G显带分析患者的核型，荧光原位杂交（fluorescence in situ hybridization，FISH）确定核型中嵌合体的比例，通过Sanger测序检测外周血中的SRY基因。结果常规G显带核型分析显示例1核型为mos．45，X[38]／46，X，＋mar[151]／47，XY，＋mar[5]／47，X，＋mar×2[2]／46，XY[4]。FISH检测发现其核型中存在12种细胞系，部分细胞系含有SRY基因，其中标记染色体为idic（Y）（p）。未发现SRY基因突变。例2核型为mos．45，X[25]／46，X，＋mar[35]。FISH检测证实标记染色体为未携带SRy基因的idie（Y）（p）。结论携带idie（Y）（p）的患者核型不稳定。女性患者有身材矮小和女性第二性征发育不全等特征。核型分析结合FISH检测可以进一步精确确定idic（Y）的断点，识别复杂的嵌合体类型，可为患者的诊断及预后分析提供依据。
Objective To investigate the phenotype-genotype association of isodicentromere Y chromosome by analysis of two female patients carrying the chromosome with sexual development disorders. Methods The karyotypes of the two patients were determined by application of conventional G banding of peripheral blood samples and fluorescence in situ hybridization （FISH）. PCR was applied to detect the presence of SRYgene. Results Conventional karyotype analysis showed case 1 to be a mosaic： mos. 45,X [38]/46 ,X, ＋mar[151]/47 ,XY, ＋mar[5]/47 ,X, ＋mar× 2[2]/46 ,XY[4], FISH showed that 12 different cell lines were presented in the karyotype of case 1 and partial cell lines with SRY gene, the marker is an isodicentromere Y chromosome[idic（Y） （p）]. No mutation was found in the SRY gene. The karyotype of case 2 was mos. 45,X[25]/46,X, ＋ marl35]. FISH showed the marker to be an idic（Y）（p） without the SRY gene. Conclusion The karyotype of patients carrying idic（Y）（p） seems unstable, and female patients have the characteristics of short stature and secondary sexual hypoplasia. Karyotype analysis combined with FISH analysis can accurately determine the breakpoint of idic（Y） and identify the types of complex mosaic, which may facilitate genetic counseling and prognosis.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第3期335-339,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（81471432）
湖南省医药卫生科技计划项目课题（2014-23）
