Takano T, Nakagome Y, Nagafuchi S, Tanaka F, Nakamura Y, Nagano T, Tanae A, Hibi I
Clin Genet. 1986 Oct;30(4):241-8. doi: 10.1111/j.1399-0004.1986.tb00603.x.
We investigated 24 patients with Prader-Willi syndrome by the high-resolution banding technique. Their history and clinical findings were also examined in some detail. Twelve had interstitial deletion of 15q; del(15) (q11.2q13) in 11 cases and del(15) (q11.2q12) in one case. Six revealed normal karyotypes at about 500-850 bands per haploid-set level. In an additional six cases, no deletion was detected. However, we took the results as tentative, as the observed karyotypes were at the 400-bands level. 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 around 400-bands or less per haploid-set level was used. There was no distinct difference in the clinical features of patients with interstitial deletion and those with a normal karyotype. Two cases in the latter group lacked some of the typical features of the former group, e.g. poor fetal vigor, neonatal feeding difficulty, hypotonia, and delayed motor development.
我们采用高分辨显带技术对24例普拉德-威利综合征患者进行了研究。还对他们的病史和临床检查结果进行了较为详细的检查。12例患者存在15号染色体长臂间质性缺失；11例为del(15)(q11.2q13)，1例为del(15)(q11.2q12)。6例患者在单倍体组水平约500 - 850条带时显示核型正常。另有6例未检测到缺失。然而，由于观察到的核型处于400条带水平，我们将结果视为初步结果。在本研究过程中，我们意识到当使用单倍体组水平每条染色体400条带或更少的有丝分裂铺片时，15号染色体长臂近端的小缺失很容易被忽略。间质性缺失患者与核型正常患者的临床特征没有明显差异。后一组中有2例缺乏前一组的一些典型特征，如胎儿活力差、新生儿喂养困难、肌张力低下和运动发育迟缓。
