[1例不育男性和1例产前胎儿的idic(Yp)的细胞遗传学和分子分析]
[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].
作者信息
Geng Qian, Luo Fu-Wei, Wu Wei-Qing, Xu Zhi-Yong, Wang Li, Wang Qin, Xie Jian-Sheng
机构信息
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, China.
出版信息
Zhonghua Nan Ke Xue. 2013 Jul;19(7):642-6.
OBJECTIVE
To evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.
METHODS
Following conventional chromosome preparation, we performed G- and C-banding karyo. typing and fluorescence in situ hybridization (FISH). Then we extracted genomic DNA using standard procedures and analyzed it by array-CGH and multiplex ligation-dependent probe amplification (MLPA).
RESULTS
Both cases were diagnosed as 45, X/46, X, idic (Yp11.31) mosaicism. The man showed 2 intact copies of Yp11.31-q12 (chrY:2, 710, 250-57, 428, 567, SRY, ZFY, UTY and AZF), and the prenatal fetus exhibited similar findings except a paternal deletion in the AZFc region.
CONCLUSION
idic(Y) (p11.31) causes short stature and male infertility. Array-CGH and MLPA can improve the accuracy of the diagnosis of 45, X/46, X, idic (Y) mosaicism, which may contribute to the studies of the phenotype-genotype correlation and clinical genetic counseling.
目的
通过细胞遗传学和分子技术检测1例不育男性和1例产前胎儿，评估idic(Yp)在基因诊断中的作用。
方法
按照常规染色体制备方法，我们进行了G带和C带核型分析以及荧光原位杂交（FISH）。然后我们使用标准程序提取基因组DNA，并通过比较基因组杂交芯片（array-CGH）和多重连接依赖探针扩增（MLPA）进行分析。
结果
两例均被诊断为45,X/46,X,idic(Yp11.31)嵌合体。该男性显示Yp11.31-q12有2个完整拷贝（chrY:2,710,250-57,428,567，SRY、ZFY、UTY和AZF），产前胎儿表现出相似结果，但AZFc区域存在父源性缺失。
结论
idic(Y)(p11.31)导致身材矮小和男性不育。array-CGH和MLPA可提高45,X/46,X,idic(Y)嵌合体诊断的准确性，这可能有助于表型-基因型相关性研究及临床遗传咨询。
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