Publication Information

{'id': 'https://openalex.org/W3025124406', 'doi': None, 'title': '[Clinical and genetic features of 45,X maleness: A case report and review of the literature].', 'display_name': '[Clinical and genetic features of 45,X maleness: A case report and review of the literature].', 'publication_year': 2017, 'publication_date': '2017-01-01', 'ids': {'openalex': 'https://openalex.org/W3025124406', 'mag': '3025124406', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/29658240'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/29658240', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National 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'raw_author_name': 'Qiu-Wen Shi', 'raw_affiliation_strings': ["Center of Reproduction, Nanning Second People's Hospital, Nanning, Guangxi 530031, China."], 'affiliations': [{'raw_affiliation_string': "Center of Reproduction, Nanning Second People's Hospital, Nanning, Guangxi 530031, China.", 'institution_ids': ['https://openalex.org/I4210133959', 'https://openalex.org/I4210145099']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005273329', 'display_name': 'Chang-Long Xu', 'orcid': 'https://orcid.org/0000-0003-4686-8617'}, 'institutions': [{'id': 'https://openalex.org/I4210133959', 'display_name': "The Second Nanning People's Hospital", 'ror': 'https://ror.org/02qmhct90', 'country_code': 'CN', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210133959']}, {'id': 'https://openalex.org/I4210145099', 'display_name': 'Xian Yang Central Hospital', 'ror': 'https://ror.org/042g3qa69', 'country_code': 'CN', 'type': 'healthcare', 'lineage': 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165], 'karyotype': [17, 55, 115, 127], '45,X.Using': [19], 'GTG-banded': [20], 'chromosome': [21, 46, 51, 90, 94, 161], 'analysis,': [22], 'we': [23], 'performed': [24], 'karyotyping': [25], 'for': [26], '150': [28], 'cm-high': [29], 'infertile': [30], 'investigated': [35], 'presence': [37], 'location': [39], 'genes': [42], 'on': [43], 'Y': [45, 89, 160], 'by': [47], 'FISH': [48, 79], 'PCR.GTG-banded': [50], 'analysis': [52], 'showed': [53], 'patient': [58, 118, 130], 'to': [59, 91, 110, 141], 'be': [60, 163], '45,X,add(14)(p11).': [61], 'The': [62, 114, 135, 143], 'results': [63], 'PCR': [65], 'manifested': [66], 'deletion': [68, 97, 144, 153], 'AZFa,': [70], 'AZFb,': [71], 'AZFc,': [72], 'AZFd': [74], 'in': [75], 'SRY': [77, 136], 'gene.': [78], 'revealed': [80], 'translocation': [82], 'short': [85, 166], 'arm': [86, 157], 'that': [92], '14': [95], 'most': [99], 'proportions': [100], 'its': [102], 'long': [103], 'arm,': [104], 'disruption': [107], 'site': [108], 'close': [109], 'centromere': [112], 'region.': [113], 'was': [119, 131], '45,X,der(Y)t(Y;14)(q11;q11.2),': [120], '14.ish': [121], '(SRY+,': [122, 175], 'CEP': [123, 176], 'Y+': [124], ',': [125], 'DYZ1－).The': [126], 'unbalanced': [132], 'Y/14': [133], 'translocation.': [134], 'gene': [137], 'is': [138], 'key': [140], 'maleness.': [142], 'AZFa－': [146], 'd': [147], 'induces': [148], 'spermatogenic': [149], 'disturbance,': [150], 'q': [156], 'may': [162], 'related': [164], 'stature.目的:': [167], '探讨1例身材矮小合并无精子的45,X不育男性的临床表型与核型的关系。方法:': [168], '采用外周血染色体G显带进行核型分析，PCR及FISH对Y染色体上SRY、': [169], 'AZF等基因进行检测和定位。结果：': [170], '外周血染色体G显带分析显示该患者核型为45,X,add(14)(p11)。PCR结果显示该患者SRY基因存在，AZFa、AZFb、AZFc、AZFd全部': [171], '缺失。FISH结果证实该患者Y染色体短臂及着丝粒区存在，且易位至14号染色体短臂，Y染色体长臂大部分片段丢失，断裂位点位于q11近着丝粒区。该患者核型描述为': [172], '45,X,der(Y)t(Y;14)(q11;q11.2)，-14': [173], '.ish': [174], 'Y+,': [177], 'DYZ1－)。结论：': [178], '该患者核型实质是Y染色体与14号染色体的不平衡易位，SRY基因的存在是男性化的关': [179], '键，AZFa~d区缺失导致精子生成障碍，Y染色体长臂缺失可能与身材矮小相关。.': [180]}, 'cited_by_api_url': 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