PMID- 23926684
OWN - NLM
STAT- MEDLINE
DCOM- 20140515
LR  - 20130809
IS  - 1009-3591 (Print)
IS  - 1009-3591 (Linking)
VI  - 19
IP  - 7
DP  - 2013 Jul
TI  - [Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal 
      fetus].
PG  - 642-6
AB  - 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.
FAU - Geng, Qian
AU  - Geng Q
AD  - Central Laboratory, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, 
      Guangdong 518048, China. sisigeng@163.com
FAU - Luo, Fu-Wei
AU  - Luo FW
FAU - Wu, Wei-Qing
AU  - Wu WQ
FAU - Xu, Zhi-Yong
AU  - Xu ZY
FAU - Wang, Li
AU  - Wang L
FAU - Wang, Qin
AU  - Wang Q
FAU - Xie, Jian-Sheng
AU  - Xie JS
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Nan Ke Xue
JT  - Zhonghua nan ke xue = National journal of andrology
JID - 101093592
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Y
MH  - *Fetus
MH  - Humans
MH  - Infertility, Male/diagnosis/*genetics
MH  - Karyotyping
MH  - Male
MH  - Microarray Analysis
MH  - Mosaicism
MH  - Sequence Deletion
EDAT- 2013/08/10 06:00
MHDA- 2014/05/16 06:00
CRDT- 2013/08/10 06:00
PHST- 2013/08/10 06:00 [entrez]
PHST- 2013/08/10 06:00 [pubmed]
PHST- 2014/05/16 06:00 [medline]
PST - ppublish
SO  - Zhonghua Nan Ke Xue. 2013 Jul;19(7):642-6.