[1] 黄婷婷,张剑,陈小露,等.88例平衡易位携带者孕中期产前诊断结果分析[J]. 中国妇幼保健,2021, 36(21):5061-5063.
Huang TT,Zhang J,Chen XL.et al.Analysis of diagnostic results of 88 carriers of balanced translocation during the second trimester of pregnancy[J].Matern Child Health Care China,2021, 36(21):5061-5063.(in Chinese)
[2] 刘丽君,李卉,姚妍怡,等.平衡易位携带者孕中期产前诊断结果分析[J].实用妇产科杂志,2018,34(3):231-233.
Liu LJ,Li H,Yao YY,et al.Analysis of the results of prenatal diagnosis of balanced translocation carriers in the second trimester of pregnancy[J].Pract Obstet Gynecol,2018,34(3):231-233.(in Chinese)
[3] Alfi OS,Donnell GN,BF Crandall,et al. Deletion of the short arm of chromosome no.9 (46,9p-): A new deletion syndrome[J]. Ann Genet,1973,16(1):17-22.
[4] 张晶卉,乔娜娜,李文,等.新生儿9p部分单体综合征一例[J].中华儿科杂志,2013,51(9):697-698.
Zhang JH,Qiao NN,Li W,et al.One case of neonatal 9p partial monomer syndrome[J].Chin J Pediat,2013,51(9):697-698.(in Chinese)
[5] Bruni V, Roppa K, Scionti F,et al.A 46,XY female with a 9p24.3p24.1 deletion and a 8q24.11q24.3 duplication: A case report and review of the literature[J]. Cytogenet Genome Res,2019.158(2):74-82.
[6] Huang S, Ye L, Chen H. Sex determination and maintenance: the role of DMRT1 andFOXL2[J]. Asian J Androl,2017,19(6):619-624.
[7] 潘丽丽,苏喆,刘霞,等.DMRT1基因变异/单倍剂量不足与46,XY性发育异常[J].中华内分泌代谢杂志,2020, 36(10):855-860.
Pan LL,Su Z,Liu X,et al.DMRT1 gene variation/haploinsufficiency and 46, XY sexual disorders of sex development[J].Chin J Endocrinol Metab,2020,36(10):855-860.(in Chinese)
[8] Güne Ș, Ekinci Ö, Ekinci N, et al.Coexistence of 9p deletion syndrome and autism spectrum disorder[J]. J Autism Dev Disord,2017,47(2):520-521.
[9] Hauge X, Raca G, Cooper S,et al. Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p[J].Genet Med, 2008,10(8):599-611.
[10] Banerjee I,Senniappan S, Laver TW, et al.Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome[J]. Wellcome Open Res,2020 Aug 4;4:149.doi:10.12688/wellcomeopenres.15465.2.
[11] Blanc P,Gouas L, Francannet C, et al.Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review[J].Am J Med Genet A,2008,146(10):1307-1311.
[12] Starr LJ,Truemper EJ, Pickering DL, et al. Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: Patient report and review of 20qter duplications[J].Am J Med Genet A, 2014,164(8):2020-2024.
[13] Iglesias A,Rauen KA, Albertson DG,et al. Duplication of distal 20q: Clinical, cytogenetic and array CGH. Characterization of a new case[J]. Clinical Dysmorphology,2006,15(1):19-23.
[14] Hasstedt SJ,Xin Y,Mao R,et al. A copy number variant on chromosome 20q13.3 implicated in thinness and severe obesity[J].J Obes,2015;2015:623431.doi: 10.1155/2015/623431.
[15] Werno MW,Wilhelmi I,Kuropka B,et al.The GTPase ARFRP1 affects lipid droplet protein composition and triglyceride release from intracellular storage of intestinal Caco-2 cells[J]. Biochem Biophys Res Commun,2018,506(1):259-265.
[16] Wilhelmi I, Grunwald S, Gimber N, et al.The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic β-cells[J].Mol Metab,2021,45:101151. doi: 10.1016/j.molmet.2020.101151.
[17] 夏家辉.医学遗传学[M].北京:人民卫生出版社,2004:142-147.
Xia JH.Medical genetics[M].Beijing:People's Publishing House,2004:142-147.(in Chinese)
[18] 屈素真,时盼来,张田园,等.CNV-seq与染色体核型分析在平衡易位携带者产前诊断中的应用[J].中华医学遗传学杂志,2022,39(4):366-369.
Qu SZ,Shi PL,Zhang TY,et al.Application of CNV-seq and chromosomal karyotype in prenatal diagnosis of carriers of balanced translocation[J].Chin J Endocrinol Metab,2022,39(4):366-369(in Chinese).
[19] Shearer BM,Thorland EC,Carlson AW,et al.Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization[J].Genet Med,2011,13(6):545-552.