Imaizumi K, Kajii T, Niikawa N
Hum Genet. 1981;59(3):266-8. doi: 10.1007/BF00283678.
A seven-year-old Japanese girl with mental retardation, epileptic seizures controllable by anticonvulsants, short stature, and multiple minor malformations was found to have apparent giant satellites on chromosome No.13. The karyotypes of her parents and elder brother were normal. Banding studies revealed that the apparent giant satellites consist of four G-bands, and are thus a de novo rearrangement product. The origin of the aberrant No. 13 was traced to a paternal meiotic error, using Q-banding and silver staining heteromorphisms as markers. Thus, the patient represents an unbalanced, de novo chromosomal rearrangement masquerading as giant satellites, with the origin of the extra chromosomal material unknown, a hitherto undescribed situation.
一名七岁的日本女孩，患有智力迟钝，癫痫发作可通过抗惊厥药物控制，身材矮小，还有多种轻微畸形，被发现13号染色体上有明显的巨大随体。她父母和哥哥的核型正常。显带研究表明，这些明显的巨大随体由四个G带组成，因此是一种新生的重排产物。利用Q带和银染多态性作为标记，将异常的13号染色体的起源追溯到父本减数分裂错误。因此，该患者代表了一种伪装成巨大随体的不平衡新生染色体重排，额外染色体物质的起源未知，这是一种迄今未描述过的情况。
