PMID- 24078566 OWN - NLM STAT- MEDLINE DCOM- 20140102 LR - 20130930 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 30 IP - 5 DP - 2013 Oct TI - [Analysis of small supernumerary marker chromosome 15q11 in four infertile males]. PG - 539-43 LID - 10.3760/cma.j.issn.1003-9406.2013.05.007 [doi] AB - OBJECTIVE: To delineate the origins of small supernumerary marker chromosomes (sSMCs) identified in 4 infertile males. METHODS: The sSMCs were analyzed with combined G-banding, N-banding, multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH) and single nucleotide polymorphisms array (SNP-array) techniques. RESULTS: G-banding analysis has suggested a 46,X,-Y,+mar karyotype in all of the 4 cases. N-banding revealed that all of the sSMCs have possessed two satellites located on both sides. By MLPA, 1 patient showed copy number gains for 15q11.2 region. SNP-array analysis suggested that all had duplication for 15q11.1-q11.2 region, spanning 3.06 Mb, 0.9118 Mb, 1.728 Mb and 0.287 Mb, respectively. By FISH analysis, all of the sSMCs showed two hybridization signals, indicating that they were dicentric chromosomes. CONCLUSION: In all of the four cases, the marker chromosomes have derived from chromosome 15 and were bisatellited and dicentric, which gave rise to a karyotype of 47,XY,+ish,inv dup(15)(q11)(D15Z4++). sSMC 15q11 therefore may be a major cause for male infertility. FAU - Tu, Xiang-dong AU - Tu XD AD - PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P. R. China. Email: tuxdmed@126.com. FAU - Cong, Xue-wen AU - Cong XW FAU - Zeng, Jian AU - Zeng J FAU - Zheng, De-zhu AU - Zheng DZ FAU - Yan, Ai-zhen AU - Yan AZ FAU - Lin, Yan-hong AU - Lin YH FAU - Qiu, Li-ping AU - Qiu LP FAU - Zhang, Min AU - Zhang M FAU - Zhong, Fuchun AU - Zhong F FAU - Lan, Fenghua AU - Lan F LA - chi PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 RN - 0 (Genetic Markers) SB - IM MH - Adult MH - Chromosome Banding MH - Chromosomes, Human, Pair 15/*genetics MH - Female MH - Genetic Markers MH - Humans MH - Infertility, Male/*genetics MH - Male MH - Pregnancy EDAT- 2013/10/01 06:00 MHDA- 2014/01/03 06:00 CRDT- 2013/10/01 06:00 PHST- 2013/10/01 06:00 [entrez] PHST- 2013/10/01 06:00 [pubmed] PHST- 2014/01/03 06:00 [medline] AID - 940630118 [pii] AID - 10.3760/cma.j.issn.1003-9406.2013.05.007 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):539-43. doi: 10.3760/cma.j.issn.1003-9406.2013.05.007.