Shi Y
Institute of Basic Medical Sciences, Beijing.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1993 Jun;15(3):217-20.
We investigated a patient with Prader-Willi syndrome by using the high-resolution banding technique. His clinical findings were also examined in some detail. The patient had interstitial deletion of 15q, with breakpoints at 15q11.2 and 15q13. However, he had a normal karyotype at about 400 bands per haploid-set. During the course of this study, it was realized that a small deletion in the proximal 15q could be easily overlooked when a mitotic spread of about 400-bands or less per haploid-set was used. It is suggested that the high-resolution banding technique is of great importance in identifying microdeletions and other microaberrations of chromosomes.
我们使用高分辨率显带技术对一名普拉德-威利综合征患者进行了研究。同时也对他的临床症状进行了较为详细的检查。该患者存在15号染色体长臂的间质性缺失，断点位于15q11.2和15q13。然而，其单倍体组约400条带时的核型是正常的。在本研究过程中发现，当单倍体组每条染色体有丝分裂相带数约为400条或更少时，近端15号染色体长臂上的小缺失很容易被忽略。提示高分辨率显带技术在识别染色体微缺失和其他微小畸变方面具有重要意义。
