PMID- 26037355 OWN - NLM STAT- MEDLINE DCOM- 20150814 LR - 20150603 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 32 IP - 3 DP - 2015 Jun TI - [Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome]. PG - 378-80 LID - 10.3760/cma.j.issn.1003-9406.2015.03.017 [doi] AB - OBJECTIVE: To explore the source and morphology of supernumerary markers from patients with 47,XYY/47,XY, +mar and supermale syndrome. METHODS: Conventional GTG banded karyotyping and dual-color fluorescence in situ hybridization (FISH) were performed on 21 such patients. RESULTS: Among these cases, 18 had their small supernumerary marker derived from the Y chromosome. Three were derived from autosomal chromosomes. Those derived from Y chromosome were small fragments with centromeres, while those derived from autosomes were in the ring form. CONCLUSION: In children with supermale syndrome and 47,XYY/47,XY,+ mar, the supernumerary marker chromosomes primarily derive from sex chromosomes. These small chromosomes mainly have the forms of small segments with centromeres or rings. For such children, molecular cytogenetic analysis can facilitate genetic counseling and prenatal diagnosis. FAU - Song, Yinsen AU - Song Y AD - Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, P.R.China. df13607670608@163.com. FAU - Jin, Xiangdong AU - Jin X FAU - Zhao, Ding AU - Zhao D FAU - Guo, Zhenxin AU - Guo Z 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 - 47, XYY syndrome SB - IM MH - Adolescent MH - Child MH - Child, Preschool MH - Chromosome Aberrations MH - Chromosome Banding MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Male MH - Sex Chromosome Disorders/*genetics MH - XYY Karyotype/*genetics EDAT- 2015/06/04 06:00 MHDA- 2015/08/15 06:00 CRDT- 2015/06/04 06:00 PHST- 2015/06/04 06:00 [entrez] PHST- 2015/06/04 06:00 [pubmed] PHST- 2015/08/15 06:00 [medline] AID - 940632082 [pii] AID - 10.3760/cma.j.issn.1003-9406.2015.03.017 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):378-80. doi: 10.3760/cma.j.issn.1003-9406.2015.03.017.