DOES RING SYNDROME EXIST - AN ANALYSIS OF 207 CASE-REPORTS ON PATIENTS WITH A RING AUTOSOME
DOES RING SYNDROME EXIST - AN ANALYSIS OF 207 CASE-REPORTS ON PATIENTS WITH A RING AUTOSOME
复制标题
DOI：
10.1007/bf00591082
复制
发表时间：
1987-02-01
期刊：
影响因子：
5.3
通讯作者：
KOSZTOLANYI, G
中科院分区：
文献类型：
--
作者：
KOSZTOLANYI, G
对207例环状常染色体病例的分析表明：（1）40例（占总数的1/5）有严重的生长障碍，但外观几乎正常，即无严重畸形，无特异性缺失综合征，无或仅有少数非特异性的微小异常。这种表型可以被认为是“环状综合征”，这是Cote等人（1981）提出的术语，因为它与涉及的染色体无关。(2)严重生长障碍是“环状综合征”中唯一的主要身体异常，在具有较大染色体环的患者中比具有较小染色体环的患者中更常见，这表明参与环状形成的染色体越大，严重生长障碍的概率越高。(3)较大的环状染色体比较小的环状染色体表现出更明显的不稳定性，这表明环状染色体的不稳定性和所涉及的染色体的大小之间可能存在相关性。(4)与“稳定”环相比，“不稳定”环的患者中存在明显更多的生长失败，表明环不稳定性和生长失败之间可能存在相关性。这表明，在许多情况下观察到的“环综合征”与环形常染色体可能会导致端到端融合的染色体末端，一个事件不涉及删除在遗传意义上。也有人认为，“环综合征”是由不断产生的次生非整倍体细胞与增加的死亡率，即结构环不稳定性，这似乎是一个功能的染色体的大小参与。因此，在某些情况下，环状染色体的形成可能被视为“结构突变”，即遗传物质本身结构的改变，而不是遗传剂量的损失或增加。
Analysis of 207 case reports on patients with ring autosome showed that: (1) Forty patients, a fifth of the total, had extreme growth failure together with an otherwise almost-normal appearance, viz. no major malformation, no specific deletion syndrome, no or only a few unspecific minor anomalies. This phenotype may be regarded as the "ring syndrome", a term proposed by Cote et al. (1981) since it is independent of what chromosome is involved. (2) Severe growth failure, the sole major physical abnormality in the "ring syndrome", was seen significantly more often among patients with ring of larger chromosomes than among patients with a smaller ring, indicating that the greater the chromosome involved in ring formation, the higher is the probability of severe growth failure. (3) Larger ring chromosomes showed significantly more often instability than smaller rings, suggesting that there may be a correlation between ring instability and the size of the chromosome involved. (4) Growth failure was present in significantly more patients with a "labile" ring than with a "stable" ring, indicating that a correlation may exist between ring instability and growth failure. It is suggested that the "ring syndrome" observed in many cases with ring autosome may result from end-to-end fusion of chromosome ends, an event not involving deletion in the genetic sense. It is also suggested that the "ring syndrome" is caused by a continuous generation of secondary aneuploid cells with increased mortality, i.e. structural ring instability which seems to be a function of the size of the chromosome involved. Thus, formation of a ring chromosome in certain cases might be regarded as a "structural mutation", i.e. and alteration in the structure of the genetic material per se, rather than a loss or gain of genetic dosages.