Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus

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 karyotyping 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.