人类环状染色体——对其临床意义的新见解
Human Ring Chromosomes - New Insights for their Clinical Significance.
作者信息
Guilherme Rs, Klein E, Hamid Ab, Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen Mb, Manolakos E, Kosyakova N, Liehr T
机构信息
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, D-07743 Jena, Germany ; Department of Morphology and Genetics, Universidade Federal de São Paulo, 04023-900 São Paulo, SP, Brazil.
出版信息
Balkan J Med Genet. 2013 Jun;16(1):13-20. doi: 10.2478/bjmg-2013-0013.
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.
通过细胞遗传学和分子技术对29条尚未报道的环状染色体进行了详细表征。对于荧光原位杂交（FISH），使用了先前发表的高分辨率方法，如多色带型分析（MCB）、着丝粒特异性多色FISH（cenM-FISH）以及应用位点特异性探针的双色或三色FISH。总共研究了源自4号染色体（1例）、10号染色体（1例）、13号染色体（5例）、14号染色体（3例）、18号染色体（2例）、21号染色体（8例）、22号染色体（3例）、X染色体（5例）和Y染色体（1例）的环状染色体。8例为产前检测到，8例因发育迟缓及畸形体征发现，9例与不孕和/或特纳综合征有关。总体而言，本报告以及文献数据支持这样一种观点，即环状染色体患者可分为两组：一组因环状染色体出现（严重）临床体征和症状，另一组除不孕外无明显临床问题。
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