Study Of Clinical Phenotype And Molecule Diagnostics Of Prader-Willi Syndrome

ObjectiveClinical diagnostic criteria of Prader-Willi syndrome established by consensus in1993，but there are differences between information collected from our hospital and thiscriteria. This study was to summarize clinical phenotype charateristic of Prader-Willisyndrome in neonates for screening earlier and making further molecular genomic forappropriate patients. PWS caused by different pathogenesy have different clinicalmanifestation,prognosis and genetic risk.MS-PCR can’t discriminate pathogenesy, thisstudy adopt methylation-specific multiplex ligation-dependent probe amplification(MS-MLPA) and short tandem repetitive sequence to confirm the significance ofMS-MLPA in diagnosis of Prader-Willi syndrome, as well as the dominance indistinguish of pathogenesy.Mothods1. Apply retrospective analysis. The information from thirteen PWS neonates that hadbeen definitly diagnosed with molecular study from Apirl2009to August2011werecollected. For each patient, the presence or absence of the major, minor features listed inthe published diagnostic criteria that provided by Holm VA etal was recorded. Then,analysed the typically clinical phenotype of Chinese neonates with PWS.2. Use peripheral blood samples collected from16patients that had been maken adefinite diagnosis by MS-PCR. extract DNA,MS-MLPA kit Me028was used to detect.short tandem repetitive sequence was for checking. Results1. The major phenotype in neonatal period inclused Skin hypopigmentation in13cases(100%) which significantly different from abroad, and central hypotonia in13cases(100%),hypogonadism in12cases (92.31%),feeding difficulty in11cases (84.62%);minor phenotype inclused characteristic facial features in5cases (38.46%), thickviscous saliva in5cases (38.46%).in addition, older gestational age in9case（s69.23%）;amniotic fluid contaminated in8cases（61.54%）, hydramnios in3cases（23.08%）,premature rupture of membrane in5cases（38.46%）, anomal fetal position in4cases（30.78%）, intrauterine embarrassed in9cases（69.23%），those were complicatingdangers in perinatal period between mother and fetus.2. The results detecting by MS-MLPA were identical with that by MS-PCR,anddiscerned4cases with paternal uniparental disomy(UPD),12cases with paternaldeletion in15q11-q13region.There was no false positive or false negative resultAuthenticated by STR.Conclusions1. Hypopigmentation and central hypotonia in neonatal period could be settled as thepreliminary screening criteria who should perform PWS molecular genomic test forChinese neonates.2. MS-MLPA is a rapid and reliable method of genetic test for PWS detection,and candistinguish pathogenesy.