[1] HILLMAN S C,MCMULLAN D J,HALL G,et al.Use of prenatal chromosomal microarray: Prospective cohort study and systematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2013,41(6):608.
[2] 染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识[J].中华妇产科杂志,2014,49(8):570-572.
[3] SHAFFER L G,DABELL M P,FISHER A J et al.Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies[J].Prenat Diagn,2012,32(10):976-978.
[4] ACOG,CG,SMFM.Practice Bulletin No.162: Prenatal Diagnostic Testing for Genetic Disorders[J].Obstet Gynecol,2016,127(5):e108-e122.
[5] KEARNEY H M,THORLAND E C,BROWN K K et al.American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J].Genet Med,2011,13(7):680-685.
[6] WAPNER R J,MARTIN C L,LEVY B,et al.Chromosomal microarray versus karyotyping for prenatal diagnosis[J].N Engl J Med,2012,367(23):2175-2184.
[7] ADVANI H V,BARRETT A N,EVANS M I,et al.Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA[J].Prenat Diagn,2017,37(11):1067-1075.
[8] DIOCIAIUTI A,ANGIONI A,PISANESCHI E,et al.Next generation sequencing uncovers a rare case of X-linked ichthyosis in an adopted girl homozygous for a novel nonsense mutation in the STS gene[J].Acta Derm Venereol,2019,99(9):8280830.
[9] WANG N,AN K,LIU H,et al.Detection of the STS gene in a family with X-linked recessive ichthyosis[J].Indian J Dermatol Venereol Leprol,2013,79(2):268.
[10] KASHORK C D,SUTTON V R,ALLEN J S F,et al.Low or absent unconjugated estriol in pregnancy: An indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis[J].Prenat Diagn,2002,22(11):1028-1032.
[11] WENGER T L,MILLER J S,DEPOLO L M,et al.22q11.2 duplication syndrome: Elevated rate of autism spectrum disorder and need for medical screening[J].Mol Autism,2016,7:27.
[12] WENTZEL C,FERNSTR?M M,?HRNER Y,et al.Clinical variability of the 22q11.2 duplication syndrome[J].Eur J Med Genet,2008,51(6):501-510.
[13] KOLE R,KRIEG A M.Exon skipping therapy for Duchenne muscular dystrophy[J].Adv Drug Deliv Rev[J].2015,87:104-107.
[14] scular dystrophy[J].Neuromuscul Disord,2014,24(6):482-491.
[15] PETTI M,SAMANICH J,PAN Q,et al.Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature[J].Am J Med Genet Part A,2011,155A(4):825-832. |
