7号染色体臂间倒位一家系遗传学分析并文献复习(4)
[6] 李显筝,李星,胡晶晶,郭莉, 孟佩佩, 陈汉彪, 王挺. 7号染色体臂间倒位遗传效应分析. 热带医学杂志, 2014, 14(2):194-196.
[7] Hyohyeon C, Lee CG. A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Am J Med Genet A,2015,167A(1):198-203.
[8] Yue FG, Jiang YT, Yu Y, Yang X. Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malfor-mations, 4q duplication, and 7q deletion. Medicine, 2018, 97(45): e13094.
[9] Ayub S, Gadji M, Krabchi K, C?té S, Gekas J, Maranda B, Drouin R. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A,2016,170A(4):896-907.
[10] Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S. Raine syndrome (OMIM #259775), caused by fam20c mutation, is congenital sclerosing osteomalacia with cerebral calcification (OMIM 259660). J Bone Miner Res,2017,32(4):757-769.
[11] 程丹,楊菁,李洁,张营, 陈娇. 复发性自然流产胎儿绒毛染色体微阵列芯片327例分析. 新医学,2018,49(11):787-792.
[12] 余宏盛,郭红,沈双双,李笑春,张丽萍,范徐妃. 染色体核型分析联合SNP-array技术在不良妊娠史孕妇产前诊断中的应用. 中华妇产科杂志,2018,53(3):155-159.
[13] 王游声,唐斌,郭莉,陈汉彪, 卢建, 尹爱华. 染色体核型分析及array CGH在超声异常胎儿诊断中的应用.中华医学遗传学杂志,2017,34(4):550-553.
[14] 杜柳,何苗,王晔,林少宾,林美芳,谢红宁. 染色体微阵列分析在持续性左上腔静脉胎儿中的临床应用. 中山大学学报(医学版),2019,40(3):459-466.
(收稿日期:2019-05-10)
(本文编辑:林燕薇), 百拇医药(李怡?罗晓辉?胡蓉?黄伟伟?彭海山?蔡婵慧?卢建)
[7] Hyohyeon C, Lee CG. A 13-year-old boy with a 7q36.1q36.3 deletion with additional findings. Am J Med Genet A,2015,167A(1):198-203.
[8] Yue FG, Jiang YT, Yu Y, Yang X. Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malfor-mations, 4q duplication, and 7q deletion. Medicine, 2018, 97(45): e13094.
[9] Ayub S, Gadji M, Krabchi K, C?té S, Gekas J, Maranda B, Drouin R. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A,2016,170A(4):896-907.
[10] Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S. Raine syndrome (OMIM #259775), caused by fam20c mutation, is congenital sclerosing osteomalacia with cerebral calcification (OMIM 259660). J Bone Miner Res,2017,32(4):757-769.
[11] 程丹,楊菁,李洁,张营, 陈娇. 复发性自然流产胎儿绒毛染色体微阵列芯片327例分析. 新医学,2018,49(11):787-792.
[12] 余宏盛,郭红,沈双双,李笑春,张丽萍,范徐妃. 染色体核型分析联合SNP-array技术在不良妊娠史孕妇产前诊断中的应用. 中华妇产科杂志,2018,53(3):155-159.
[13] 王游声,唐斌,郭莉,陈汉彪, 卢建, 尹爱华. 染色体核型分析及array CGH在超声异常胎儿诊断中的应用.中华医学遗传学杂志,2017,34(4):550-553.
[14] 杜柳,何苗,王晔,林少宾,林美芳,谢红宁. 染色体微阵列分析在持续性左上腔静脉胎儿中的临床应用. 中山大学学报(医学版),2019,40(3):459-466.
(收稿日期:2019-05-10)
(本文编辑:林燕薇), 百拇医药(李怡?罗晓辉?胡蓉?黄伟伟?彭海山?蔡婵慧?卢建)