Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13...Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.展开更多
文摘1病例介绍患儿男,13岁。因"发现腰背部畸形6年余"于2019年6月入院。6年前患儿家属发现其腰背部畸形,平卧畸形无改善。无腰背疼痛、四肢麻木、大小便功能障碍等,曾于外院给予胸腰支具治疗。因患儿依从性差,未坚持佩戴支具,畸形进行性加重,遂于本院接受手术治疗。查体:胸腰椎"S"型侧弯畸形,右侧剃刀背,较对侧高约5 cm;双肩不等高,右肩较左肩高约2 cm.
文摘Prader-Willi Syndrome （PWS） is a genetic disorder that is difficult to detect, particularly at an early age. PWS is caused by disruption of normal, epigenetically controlled gene function in the chromosome 15q11-q13 region. Clinical symptoms are difficult to diagnose in infants and only become clearer at later ages as the patients develop hyperphagia and morbid obesity. Molecular genetic tests are able to definitively diagnose PWS and allow early diagnosis of the syndrome. High resolution cytogenetic testing, methylation-specific PCR （MS-PCR）, and linkage analysis are routinely used to diagnose PWS. To establish a linkage analysis method for Chinese patients, this study identified a useful set of STR markers in the typical PWS deletion and adjacent area, for linkage analysis in two Chinese families with PWS offspring. Using this method, the authors confn＇rned that one patient had a paternal deletion in chromosome 15q 11-q 13 and the other patient had maternal uniparental heterodisomy of chromosome 15. MS -PCR and high resolution chromosome G-banding also confirmed this diagnosis. This linkage analysis method can detect both deletion and uniparental disomy, thus providing valuable information for genetic counseling and the opportunity to analyze the relationship between the genotype and phenotype of PWS.
