Wharton R H, Loechner K J
Spaulding Rehabilitation Hospital, Boston, MA 02114, USA.
Curr Opin Pediatr. 1996 Dec;8(6):618-24. doi: 10.1097/00008480-199612000-00013.
Prader-Willi syndrome is a developmental disorder with distinctive dysmorphic features, specific neurobehavioral attributes, and a characteristic learning profile. Advances continue to be made in understanding the factors associated with the loss of imprinted gene expression within chromosome 15q11-q13. These advances are helping providers make certain diagnoses early and are helping scientists uncover new genetic pathways. In addition, efforts to further understand the role of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information responsible for the neurobehavioral profile are additional targets for research.
普拉德-威利综合征是一种发育障碍，具有独特的畸形特征、特定的神经行为属性和典型的学习模式。在理解与15号染色体q11-q13区域印记基因表达缺失相关的因素方面不断取得进展。这些进展有助于医疗服务提供者早期做出某些诊断，并帮助科学家发现新的遗传途径。此外，进一步了解重组生长激素疗法在普拉德-威利综合征中的作用以及负责神经行为特征的遗传信息也是研究的其他目标。
