机译:超越唐氏综合症表型:患者衍生的异胚胎染色体21,部分单体21Q222.3
Department of Obstetrics and GynecologyDetroit Medical Center/Wayne State UniversityDetroit Michigan;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
GenescreenPittsburgh Pennsylvania;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
Department of Obstetrics Gynecology and Reproductive SciencesUniversity of PittsburghPittsburgh;
21q22.3 deletion; chromosomal microarray analysis (CMA); isodicentric 21; partial trisomy 21; prenatal diagnosis;
机译:超越唐氏综合症表型:患者衍生的异胚胎染色体21,部分单体21Q222.3
机译:镶嵌环21号染色体,21号染色体和等距环21号染色体:产前诊断,分子细胞遗传学特征以及与21q21.1–q21.2的2-Mb缺失和21q22.3的5-Mb缺失相关
机译:阵列CGH在唐氏综合征中的基因型与表型的相关性,通过阵列CGH鉴定了30例部分三体性和部分单体性21号染色体。
机译:概述患者特定的iPSC来源的心肌细胞与心肌梗死的染色体突变9p21的表征。
机译:唐氏综合症(21三体综合征):从形态计量学研究中得出的发展意义,该研究涉及基因剂量不平衡对人和Ts1Yey唐氏综合症小鼠模型的颅面表型的影响。
机译:21q22.3远端的单体切割对21号染色体镜像重复中的唐氏综合症表型没有显着影响
机译:马赛克环染色体21,单体21和等阳环21号染色体:产前诊断,分子细胞遗传学表征,以及21q21.1的2-mb缺失 - q21.2和21q22.3的5-mb缺失的关联