Smith Arabella, Hung Dorothy
University of Sydney Clinical School, Children's Hospital at Westmead, Westmead, Australia.
Children's Hospital at Westmead, Sydney Genome Diagnostics (Cytogenetics), Children's Hospital Network, PO Box 4001, Westmead, Australia.
Transl Pediatr. 2017 Jan;6(1):46-56. doi: 10.21037/tp.2016.07.04.
Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost-effective approach to diagnostic testing.
尽管普拉德-威利综合征（PWS）是一种已被充分描述的临床畸形综合征，但确诊仍需进行DNA检测。使用DNA检测可在约99%的病例中做出确诊；有多种DNA检测可用于此目的，尽管尚无固定的标准检测算法。由于PWS背后复杂的遗传机制尚待阐明，因此出现了两难局面。要通过全面检查确定分子机制，至少需要进行2项检测。在此，我们讨论目前常用的检测方法，并提出一种具有成本效益的诊断检测方法。
