[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 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.


CONCLUSIONS
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.
Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, China. sisigeng@163.com
Qian
Q
Geng
Fu-Wei
FW
Luo
Wei-Qing
WQ
Wu
Zhi-Yong
ZY
Xu
Li
L
Wang
Qin
Q
Wang
Jian-Sheng
JS
Xie
D000328:Adult; D041322:Chromosomes, Human, Y; D005333:Fetus; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis; D009030:Mosaicism; D017384:Sequence Deletion