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首页> 外文期刊>Balkan journal of medical genetics: BJMG >HUMAN RING CHROMOSOMES - NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE
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HUMAN RING CHROMOSOMES - NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE

机译：人环染色体组-其临床意义的新见解

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摘要

Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.
机译：通过细胞遗传学和分子技术详细鉴定了29个尚未报告的环染色体。对于FISH（荧光原位杂交），先前已发布了高分辨率方法，例如多色条带（MCB），亚着丝粒特异性多色FISH（cenM-FISH）和使用基因座特异性探针的2至3色FISH。总的来说，环状染色体来源于染色体4（1例），10（1例），13（5例），14（3例），18（2例），21（8例），22（3例），研究了X（5例）和Y（1例）。产前发现8例，发育迟缓和畸形迹象8例，与不育和/或特纳综合征相关的9例。总的来说，该报告与文献资料一起支持环形染色体患者分为两组：第一组由于环形染色体而具有（严重）临床体征和症状，第二组除了不育症外没有明显的临床问题。 。

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