PMID- 18953861 OWN - NLM STAT- MEDLINE DCOM- 20110815 LR - 20081028 IS - 0529-567X (Print) IS - 0529-567X (Linking) VI - 43 IP - 5 DP - 2008 May TI - [Application of spectral karyotyping in diagnosis and prenatal diagnosis of the marker chromosome]. PG - 321-4 AB - OBJECTIVE: To determine the value of spectral karyotyping(SKY) in identification of the marker chromosome. METHODS: Selected six cases that could not be identified in clinic were studied, using samples of peripheral blood from four cases, and samples of amonic fluid and fetal cord blood for prenatal diagnosis in two cases were investigated. All cases were analyzed with the routine SKY method, and the results with the SKY View software. The SKY results were identified by using fluorescence in situ hybridization (FISH). And C-banding technique was used to help diagnose the heterochromatin. RESULTS: SKY was successfully performed on all of 6 cases. The origin of all marker chromosomes was identified by SKY. Except case No. 4, the others were confirmed by FISH. It helped determine the pregnancy outcome in two cases of prenatal diagnosis: one case of genetic marker chromosome continued the pregnancy, and another case of de novo marker chromosome was terminated of the pregnancy. CONCLUSION: SKY may be a valuable tool to diagnose the marker chromosome with rapidness,direct-viewing and sensitiveness. It can be used to assess the prognosis and the pregnancy outcome. FAU - Liao, Can AU - Liao C AD - Institute of Eugenics and Perinatology, Women and Children's Hospital of Guangzhou, Guangzhou 510180, China. canliao@hotmail.com FAU - Pan, Min AU - Pan M FAU - Li, Dong-Zhi AU - Li DZ FAU - Yi, Cui-Xing AU - Yi CX FAU - Hu, Shun-Yan AU - Hu SY FAU - Yuan, Si-Min AU - Yuan SM FAU - Wu, Shao-Qing AU - Wu SQ LA - chi PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhonghua Fu Chan Ke Za Zhi JT - Zhonghua fu chan ke za zhi JID - 16210370R RN - 0 (Genetic Markers) SB - IM MH - *Chromosome Aberrations MH - Chromosome Disorders/diagnosis/genetics MH - Chromosomes, Human/*genetics MH - Chromosomes, Human, Pair 15/genetics MH - Chromosomes, Human, Pair 22/genetics MH - Female MH - Genetic Markers MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Pregnancy MH - Pregnancy Outcome MH - Prenatal Diagnosis/*methods MH - Sensitivity and Specificity MH - Spectral Karyotyping/*methods EDAT- 2008/10/29 09:00 MHDA- 2011/08/16 06:00 CRDT- 2008/10/29 09:00 PHST- 2008/10/29 09:00 [pubmed] PHST- 2011/08/16 06:00 [medline] PHST- 2008/10/29 09:00 [entrez] PST - ppublish SO - Zhonghua Fu Chan Ke Za Zhi. 2008 May;43(5):321-4.