目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒...目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒位”或“pericentric inversion of chromosome7”为检索词在PubMed、中文期刊全文数据库(CNKI)、万方数据知识服务平台及维普中文科技期刊数据库检索,收集并分析检索到的源于亲代臂间倒位7号染色体重组患者临床资料。结果该例超声提示胎儿多发异常,表现为全前脑、唇腭裂、淋巴管水囊瘤、全身皮肤水肿及脐膨出声像;胎儿染色体核型为46,XN,rec(7)dup(7p)inv(7)(p21q35),胎儿父亲染色体核型为46,XY,inv(7)(p21q35),胎儿母亲染色体核型正常。染色体微阵列分析提示胎儿7号染色体7p21.3-pter位置发生重复、7q35-qter位置发生缺失,这些区域涉及FAM20C和SHH、EN2等具有临床意义的候选基因。检索文献后共收集4例源于亲代臂间倒位的7号染色体重组患者临床资料,但均为出生后病例并伴不同程度肢体异常,其中一例与该例有相近重复及缺失的染色体区域,主要表现为严重智力障碍、头小畸形、矮小及形态异常。结论臂间倒位可引起子代染色体重组从而导致胎儿发育异常,7号染色体重组涉及的FAM20C和SHH基因与唇腭裂和全前脑等表型相关,通过染色体核型分析及染色体微阵列分析可明确遗传病因,指导遗传咨询。展开更多
Objective: To study the frequency of interstitial 7q deletions in B-cell lymphoproliferative disorders (B-LPDs). Methods: Cases were collected from the clinical laboratory diagnosis database at USLabs/LabCorp over the...Objective: To study the frequency of interstitial 7q deletions in B-cell lymphoproliferative disorders (B-LPDs). Methods: Cases were collected from the clinical laboratory diagnosis database at USLabs/LabCorp over the past two years (2002 to 2004). Cases that showed deletions in the long arm of chromosome 7 were then reviewed. Interstitial deletions in the long arm of chromosome 7 were further investigated according to the indications for clinical laboratory studies and flow cytometry findings. The final clinical diagnosis for each case was obtained from the referring physician. Results: A total of 19 483 cases were included in this series. Eighty-five cases were observed to have either terminal or interstitial deletion in the long arm of chromosome 7. Of the 85 cases, 46 had interstitial deletions accounting for 54.1% of the 7q deletions combined. B-LPDs were found in 10 of the 46 cases, accounting for 21.7%. The B-LPDs associated with 7q interstitial deletions were diverse, including B-cell chronic lymphocytic leukemia (B-CLL) in five cases. The deleted region in the long arm of chromosome 7 in the 10 cases associated with B-LPDs was solely confined to the 7q22-q32 region. Conclusion: (1) The frequency of 7q interstitial deletions associated with B-LPDs is substantially high; (2) 7q interstitial deletions are not uncommon in B-CLL.展开更多
文摘目的探讨一例源于亲代臂间倒位的7号染色体重组胎儿超声及分子遗传特征。方法对超声提示颈项透明层增厚、颅脑发育异常的胎儿行染色体G显带分析及染色体微阵列分析,并对胎儿父母双方行染色体G显带分析以明确来源。以“7号染色体臂间倒位”或“pericentric inversion of chromosome7”为检索词在PubMed、中文期刊全文数据库(CNKI)、万方数据知识服务平台及维普中文科技期刊数据库检索,收集并分析检索到的源于亲代臂间倒位7号染色体重组患者临床资料。结果该例超声提示胎儿多发异常,表现为全前脑、唇腭裂、淋巴管水囊瘤、全身皮肤水肿及脐膨出声像;胎儿染色体核型为46,XN,rec(7)dup(7p)inv(7)(p21q35),胎儿父亲染色体核型为46,XY,inv(7)(p21q35),胎儿母亲染色体核型正常。染色体微阵列分析提示胎儿7号染色体7p21.3-pter位置发生重复、7q35-qter位置发生缺失,这些区域涉及FAM20C和SHH、EN2等具有临床意义的候选基因。检索文献后共收集4例源于亲代臂间倒位的7号染色体重组患者临床资料,但均为出生后病例并伴不同程度肢体异常,其中一例与该例有相近重复及缺失的染色体区域,主要表现为严重智力障碍、头小畸形、矮小及形态异常。结论臂间倒位可引起子代染色体重组从而导致胎儿发育异常,7号染色体重组涉及的FAM20C和SHH基因与唇腭裂和全前脑等表型相关,通过染色体核型分析及染色体微阵列分析可明确遗传病因,指导遗传咨询。
文摘Objective: To study the frequency of interstitial 7q deletions in B-cell lymphoproliferative disorders (B-LPDs). Methods: Cases were collected from the clinical laboratory diagnosis database at USLabs/LabCorp over the past two years (2002 to 2004). Cases that showed deletions in the long arm of chromosome 7 were then reviewed. Interstitial deletions in the long arm of chromosome 7 were further investigated according to the indications for clinical laboratory studies and flow cytometry findings. The final clinical diagnosis for each case was obtained from the referring physician. Results: A total of 19 483 cases were included in this series. Eighty-five cases were observed to have either terminal or interstitial deletion in the long arm of chromosome 7. Of the 85 cases, 46 had interstitial deletions accounting for 54.1% of the 7q deletions combined. B-LPDs were found in 10 of the 46 cases, accounting for 21.7%. The B-LPDs associated with 7q interstitial deletions were diverse, including B-cell chronic lymphocytic leukemia (B-CLL) in five cases. The deleted region in the long arm of chromosome 7 in the 10 cases associated with B-LPDs was solely confined to the 7q22-q32 region. Conclusion: (1) The frequency of 7q interstitial deletions associated with B-LPDs is substantially high; (2) 7q interstitial deletions are not uncommon in B-CLL.
