Livingston G K, Lockey J E, Witt K S, Rogers S W
Am J Hum Genet. 1985 May;37(3):553-60.
The short arms of the acrocentric chromosomes are among the most common sites in which to find human chromosomal heteromorphisms. Heteromorphic chromosomes are noted for their variability between individuals and populations; however, they generally are consistent within an individual. Contrary to this general rule, a normal female was found to have a giant satellite on the short arm of a chromosome 22 in most lymphocytes and fibroblasts, but in other cells, it was attached to a chromosome 21. Furthermore, in some cells, it was found on multiple chromosomes, that is, on both 22's or on a 21 and a 22. The familial nature of this heteromorphism was established when it was found in the woman's mother, where it was confined exclusively to chromosome 22. These results suggest an unstable giant satellite associated with both G-group chromosomes of a normal individual. Results are discussed in the light of the patient's occupational exposure to insecticides at a mushroom farm.
近端着丝粒染色体的短臂是发现人类染色体异态性最常见的部位之一。异态染色体以其在个体和群体间的变异性而闻名；然而，它们在个体内部通常是一致的。与这一普遍规律相反，在一名正常女性的大多数淋巴细胞和成纤维细胞中，发现其22号染色体短臂上有一个巨大的随体，但在其他细胞中，它附着在21号染色体上。此外，在一些细胞中，发现它存在于多条染色体上，即两条22号染色体上或一条21号和一条22号染色体上。当在该女性的母亲身上发现这种异态性时，确定了其家族性，在她母亲身上，它仅局限于22号染色体。这些结果提示在一名正常个体中，一个不稳定的巨大随体与G组两条染色体相关。根据患者在蘑菇农场接触杀虫剂的职业暴露情况对结果进行了讨论。
