Greenberg F, Elder F F, Ledbetter D H
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Am J Med Genet. 1987 Dec;28(4):845-56. doi: 10.1002/ajmg.1320280409.
Although Prader-Willi syndrome (PWS) patients usually first present with neonatal hypotonia and feeding difficulty, they later show hyperphagia, obesity and mental retardation. Since deletions of chromosomes 15q11-q13 are noted in most PWS patients cytogenetic analysis allows one to diagnose infants suspected of PWS with a greater certainty. We report on 5 hypotonic infants clinically suspected of PWS in the first 3 months of life, whose diagnosis was confirmed by cytogenetic studies showing monosomy of 15q11-q13. Early diagnosis of PWS can lead to prevention of obesity, but counseling of parents has been difficult. Although there are significant benefits to the early diagnosis of PWS, the cost-effectiveness and practicality of screening all hypotonic infants using high resolution cytogenetic analysis has been addressed systematically.
尽管普拉德-威利综合征（PWS）患者通常最初表现为新生儿肌张力减退和喂养困难，但随后会出现食欲亢进、肥胖和智力迟钝。由于大多数PWS患者存在15q11-q13染色体缺失，细胞遗传学分析能够更准确地诊断疑似PWS的婴儿。我们报告了5例在出生后前3个月临床上疑似PWS的低张力婴儿，其诊断通过细胞遗传学研究得以证实，显示15q11-q13单体性。PWS的早期诊断可预防肥胖，但向家长提供咨询却很困难。尽管PWS的早期诊断有显著益处，但使用高分辨率细胞遗传学分析对所有低张力婴儿进行筛查的成本效益和实用性已得到系统探讨。
