Hwu W L, Tsai W Y, Lee J S, Wang P J, Wang T R
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1991 Mar-Apr;32(2):105-11.
We report one classical case of Prader-Willi syndrome, and show the specific chromosome number 15 interstitial deletion. This one and half year old boy had the typical face of Prader-Willi syndrome and its characteristic histories of hypotonia, poor feeding, poor growth during early infancy, and then improved appetite and growth since the later half infancy. He also had bilateral cryptorchism and hypogonadism. With an aid of high resolution chromosomal banding technique, we found a small deletion including band 11 to 13 of the long arm of one of his chromosome number 15. This kind of chromosomal aberration is frequently found in Prader-Willi syndrome. This is the first case of Prader-Willi syndrome with chromosomal changes we found in Taiwan. Chromosomal changes may help both the diagnosis and the understanding of etiologies of many disease. We hope the ability to detect small chromosomal lesions will initiate our study to those hereditary diseases.
我们报告一例典型的普拉德-威利综合征病例，并展示了特定的15号染色体间质缺失。这个一岁半的男孩具有普拉德-威利综合征的典型面容，以及其特征性病史，包括肌张力低下、喂养困难、婴儿早期生长发育迟缓，而后半岁起食欲和生长情况改善。他还患有双侧隐睾症和性腺功能减退。借助高分辨率染色体显带技术，我们发现他的一条15号染色体长臂的11区至13区存在一个小的缺失。这种染色体畸变在普拉德-威利综合征中经常被发现。这是我们在台湾发现的首例伴有染色体改变的普拉德-威利综合征病例。染色体改变可能有助于许多疾病的诊断和病因理解。我们希望检测小染色体病变的能力能开启我们对那些遗传性疾病的研究。
