Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
第一作者:
Mi Kyoung,Kim
第一单位:
Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, College of Medicine, CHA University, Seoul 135-081, Republic of Korea.
作者:
关键词
AmenorrheaArray CGHFISHFSHLHMLPAMbPOFPremature ovarian failurePrimary ovarian insufficiencyX chromosome aberrationarray based comparative genomic hybridizationfluorescent in situ hybridizationfollicle stimulating hormoneluteinizing hormonemegabasemultiplex ligation-dependent probe amplificationpremature ovarian failure
医学主题词
成年人(Adult);染色体缺失(Chromosome Deletion);染色体重复(Chromosome Duplication);染色体, 人, X(Chromosomes, Human, X);比较基因组杂交(Comparative Genomic Hybridization);细胞遗传学分析(Cytogenetic Analysis);女(雌)性(Female);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);核型分析(Karyotyping);中年人(Middle Aged);原发性卵巢功能不全(Primary Ovarian Insufficiency)
DOI
10.1016/j.gene.2013.10.026
PMID
24148559
发布时间
2014-09-08
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Gene
54-9页
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