PMID- 26600507 OWN - NLM STAT- MEDLINE DCOM- 20160902 LR - 20161126 IS - 1676-5680 (Electronic) IS - 1676-5680 (Linking) VI - 14 IP - 4 DP - 2015 Nov 19 TI - Identification of the origin of marker chromosomes by two-color fluorescence in situ hybridization and polymerase chain reaction in azoospermic patients. PG - 14488-95 LID - 10.4238/2015.November.18.11 [doi] AB - Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoospermia, two-color fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were carried out. The marker chromosomes for the two patients with azoospermia originated in the Y chromosome; it was ascertained that the karyotype of both patients was 46,X, ish del(Y)(q11)(DYZ3+, DXZ1-). The combination of two-color FISH and PCR techniques is an important method for the identification of the origin of marker chromosomes. Thus, genetic counseling and a clear genetic diagnosis of patients with azoospermia before intracytoplasmic sperm injection or other clinical managements are important. FAU - Wei, C L AU - Wei CL AD - Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China. FAU - Cheng, J L AU - Cheng JL AD - Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China. FAU - Yang, W C AU - Yang WC AD - Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China. FAU - Li, L Y AU - Li LY AD - Insistitute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan Province, China. FAU - Cheng, H C AU - Cheng HC AD - Insistitute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha, Hunan Province, China. FAU - Fu, J J AU - Fu JJ AD - Key Laboratory of Epigenetics and Oncology, Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou, Sichuan Province, China fujunjiang@hotmail.com. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20151119 PL - Brazil TA - Genet Mol Res JT - Genetics and molecular research : GMR JID - 101169387 RN - Male sterility due to Y-chromosome deletions SB - IM MH - Azoospermia/*diagnosis/genetics/pathology MH - *Chromosome Aberrations MH - Chromosome Deletion MH - Chromosomes, Human, Y/genetics MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Infertility, Male MH - Karyotype MH - Male MH - Polymerase Chain Reaction MH - Sex Chromosome Aberrations MH - Sex Chromosome Disorders of Sex Development/*diagnosis/genetics/pathology EDAT- 2015/11/26 06:00 MHDA- 2016/09/03 06:00 CRDT- 2015/11/25 06:00 PHST- 2015/11/25 06:00 [entrez] PHST- 2015/11/26 06:00 [pubmed] PHST- 2016/09/03 06:00 [medline] AID - gmr5919 [pii] AID - 10.4238/2015.November.18.11 [doi] PST - epublish SO - Genet Mol Res. 2015 Nov 19;14(4):14488-95. doi: 10.4238/2015.November.18.11.