5The New England Regional Genetics Group collabor ativwe study of Down syndrome screening combining in aternal serum alpha-fetopprotein measurements and age to screen for down syndrome in pregnant women under age 35[J].Am J Obstet Gyneeol,1989,160:575.
6杜传书,刘祖洞,主编.医学遗传学[M].人民卫生出版社.1981.
7Borrell A,Costa D,Martinez JM,et al.Early midtrimester fetal nuchal thickness:effectiveness as a marker for Down syndrome. Obstetrics and Gynecology . 1996
8Slotnick RN,Abuhamad AZ.Prognostic implications of fetal echogenic bowel. The Lancet . 1996
9Tannirandorn Y,Manotaya S,Uerpairojkit B,et al.Value of humerus length shortening for prenatal detection of Down syndrome in a Thai population. Journal of Obstetrics and Gynaecology . 2002
10Benacerraf BR.The role of the second trimester genetic sonogram in screening for fetal Down syndrome. Seminars in Perinatology . 2005
4Namba A, Nishiyama M, Weiser JJ, et al.Prenatal diagnosis of complex rearrangement of chromosome 21 :The significance of interphase and metaphase fluorescence in situ hybridization and comparative genomic hybridization[J].Clin Case Rep, 2013, 1 (2) : 50-53.
5Bonaglia MC, Giorda R, Carrozzo R.et al.20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ :narrowing of the 9p duplication critical region to 6 Mb[J]. Am J Med Genet, 2002, 112 (2) :154-159.
6Iacovella C, Contro E, Ghi T, et al. The effect of the contents of exomphalos and nuchal translucency at 11-14 weeks on the likelihood of associated chromosomal abnormality [ J] . Prenat Diagn, 2012, 32 (11): 1066-1070.
7Kosaki R, Hanai S, Kakishima H, et al. Discrepancies in cytogenetic results between amniocytes and postnatally ob- tained blood : trisomy 9 mosaicism [ J] . Congenit Anom (Kyoto), 2006, 46 (2): 115-117.
8Morales C, Cuatrecasas E, Mademont-Soler I, et al. Non- mosaic trisomy 20 of parternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues [J] . Eur J ned Genet, 2010, 53 (4) : 197-200.
9Liehr T, Ewers E, Kosyakova N, et al. Handling small su- pernumerary marker chromosomes in prenatal diagnostics [J] . Expert Rev Mol Diagn, 2009, 9 (4) : 317-324.
10Marie N, Martinet D, Aboura A, et al. Molecular character- ization of 39 de novo sSMC: contribution to prognosis and ge- netic counselling, a prospective study [J] . Clin Genet, 2014, 85 (3): 233-44.