4Helszer Z, constantionou M, et al . Application of FISH and QPCR techniques in breakpoint diagnosies in three cases of marker chromosomes derived from chromosome 15 [J]. Med Sci Monit,2001, 7(3) :464 - 70.
5Engelen J J, Tuerlings JH, et al. Prenatally detected marker chromosome identified as an 1(22)(p10) using (micro)FISH[J]. Genet Couns, 2000, 11(1) : 13 - 7.
6Weremowiez S, Sandrom DJ, Morton CC, et al. Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy : experience in 911 prenayal cases[J]. Prenat Diagn, 2001, 21(4) :262 -269.
7Hanson C, Jakobsson AH, Sjogren A, et al. Preimplatation genetic diagnosis: the Gothenburg experience. Acta Obstet Gynecol Scand[J ], 2001,80(4): 331 - 336.
8Tabet AC, Abounm A, et al. Cytogenetic analysis of trophoblasts by comarative genomic hybridization in embryo- fetal development anomalies[J]. Prenat Diagn, 2001,21(8) :613 - 8.
9Gremer T, Lundegen J , et al. Detection of chromosome aberration in the human interfuase nucleus by visualization of special target DNAs with radiactive and nonradioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L184 [J ]. Hum Genet,1986: 74 : 346 - 352.
10Cai, LS, Lira, AS, Tan, A. Rapid one- day fluorescence Lu situ hybridization in prenatal diagnosis using uncultured amniocytes and chorionic villi[J]. Ann Acad Med Singapore, 1999 Jul, 28(4) :502-7.
5Zapletalova E, Hedvicakova P, Kozak Let al. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy [J] . Neuromuscular Disorders, 2007 , 1 (7) : 476.
6Lalic T, Vossen RH, Coffa Jet al. Deletion and duplication screening in the DMD gene using MLPA [ J ] . Eur J Hum Genet, 2005, 13 (11): 1231.
7Gerdes T, Kirchhoff M, Lind AM et al. Computer - assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation - dependent probe amplifacation (MLPA) [ J]. Eur J Hum Genet, 2005, 13 (2): 171.
8BourdonV, Plessis G, Chapon F et al. Chromosome imbalances in oligodendroglial tumors detected by comparative genomic hybridization [ J] . Ann Genet , 2004 , 47 2:105.
9Le Caignec C, Boceno M, Saugier - Veber Pet al. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations [J] .Med Genet, 2005, 4 (2) : 121.
10Miura S, Miura K, Masuzaki H et al. Microarray comparative genomic hybridization (CGH) - based prenatal diagnosis for chromosome abnormalities using cell - free fetal DNA in amniotic fluid [J] . Hum Genet , 2006,5 (1): 412.