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首页> 外文期刊>Journal of Human Reproductive Sciences >A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2;q22.1)
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A rare balanced nonrobertsonian translocation involving acrocentric chromosomes: Chromosome abnormality of t(13;15)(p11.2;q22.1)

机译:罕见的涉及非中心轴染色体的平衡非罗伯逊式易位:t(13; 15)(p11.2; q22.1)的染色体异常

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BACKGROUND: Balanced non-robertsonian translocation (RT), involving acrocentric chromosomes, is a rare event and only a few cases are reported. Most of the RTs are balanced involving acrocentric chromosomes with the breakpoints (q10;q10). MATERIALS AND METHODS: Chromosome analysis was performed as per standard procedure – Giemsa-trypsin banding with 500 band resolution was analyzed for chromosome identification. RESULTS: In the present study, we report a rare balanced non-RTs involving chromosomes 13 and 15 with cytogenetic finding of 46, XX, t(13;15) (p11.2;q22.1). CONCLUSION: To the best of our knowledge, this is the first such report of an unusual non-RT of t(13:15) with (p11.2;q22.1) break points. KEY WORDS: Chromosome analysis, nonrobertsonian translocation, preimplantation genetic diagnosis.
机译:背景:涉及非中心染色体的平衡非罗伯逊式易位(RT)是罕见的事件,仅报道了少数病例。大多数RT是平衡的,涉及具有断点(q10; q10)的近端染色体。材料与方法:按照标准程序进行染色体分析–分析具有500波段分辨率的Giemsa-胰蛋白酶带,以鉴定染色体。结果:在本研究中,我们报告了一种罕见的平衡非RT,涉及染色体13和15,细胞遗传学发现为46,XX,t(13; 15)(p11.2; q22.1)。结论:据我们所知,这是第一个这样的报告,报告说非正常的非RT的t(13:15)的断点为(p11.2; q22.1)。关键词:染色体分析,非罗伯逊易位,植入前遗传学诊断。

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