PMID- 16086285 OWN - NLM STAT- MEDLINE DCOM- 20090319 LR - 20050808 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 22 IP - 4 DP - 2005 Aug TI - [Marker chromosome analysis in Chinese patients with Turner syndrome by fluorescence in situ hybridization]. PG - 435-7 AB - OBJECTIVE: To identify the origin of marker chromosome of patients with Turner syndrome, and to provide the information for genetic counseling and treatment. METHODS: The karyotypes of 32 patients with Turner syndrome from 2001 to 2003 at the Center for Diagnosis of Genetic Metabolic Diseases were reviewed. Metaphase chromosome analyses of peripheral blood lymphocytes, G-band and C-band were performed using standard methods. Fluorescence in situ hybridization (FISH) was performed to identify the origin of marker chromosome by using two probes: sex-determining region Y (SRY) for band region Yp11.3 and chromosome enumeration probe for X(CEPX) for band region Xp11.1-q11.1. RESULTS: 3/32(9.4%) patients with Turner syndrome had marker chromosome, the karyotype being 45,X/46,X,mar. Among the 3 marker chromosomes, 2 originated from chromosome X or Y, as identified by the FISH. The origin of the third marker chromosome could not be identified by CEPX and SRY probes. CONCLUSION: The presence of a marker chromosome in Turner syndrome generally implicates a sex chromosome origin. It may also originate from a non-sex chromosome. Therefore, it is necessary to apply X and Y probes simultaneously for marker chromosome detection in Turner patients with monosomy X. FAU - Liang, Yan AU - Liang Y AD - Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030 PR China. FAU - Luo, Xiao-ping AU - Luo XP 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 SB - IM MH - Adolescent MH - Chromosome Banding MH - Chromosomes, Human, X/genetics MH - Chromosomes, Human, Y/genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Karyotyping MH - Turner Syndrome/diagnosis/*genetics EDAT- 2005/08/09 09:00 MHDA- 2009/03/20 09:00 CRDT- 2005/08/09 09:00 PHST- 2005/08/09 09:00 [pubmed] PHST- 2009/03/20 09:00 [medline] PHST- 2005/08/09 09:00 [entrez] AID - 940622106 [pii] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):435-7.