Mattei M G, Souiah N, Mattei J F
Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.
The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.
15号染色体的行为与其他近端着丝粒染色体的行为有很大不同。与普拉德-威利综合征(PWS)相关的重排的细胞遗传学特征,无论相关表型如何(15号染色体的相互易位、小的双随体额外染色体、罗伯逊易位、中间缺失、臂间倒位),都被分析为相似的重排。这项研究表明:(1)近端(15q)区域与PWS似乎不可分割;(2)15号染色体具有无可争议的细胞遗传学独特性,这可能与其组织化学特性有关。15号染色体的组成型异染色质通常含有大量富含5-甲基胞嘧啶的DNA以及四种卫星DNA中的每一种的大量拷贝。此外,可以推测在近端(15q)区域存在一个或几个回文序列,以解释15号染色体该区域的高度不稳定性。