Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus.
- Author:
Qian GENG
1
;
Fu-Wei LUO
;
Wei-Qing WU
;
Zhi-Yong XU
;
Li WANG
;
Qin WANG
;
Jian-Sheng XIE
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosomes, Human, Y; Fetus; Humans; Infertility, Male; diagnosis; genetics; Karyotyping; Male; Microarray Analysis; Mosaicism; Sequence Deletion
- From: National Journal of Andrology 2013;19(7):642-646
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.
METHODSFollowing 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).
RESULTSBoth 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.
CONCLUSIONidic(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.
