Prader-Willi syndrome
Conditions
Interventions
Gold Standard:Methylation specific multiplex ligation probe amplification (MS-MLPA) combined with chromosome G-banding karyotype analysis and array comparative genomic hybridization (array CGH).
of 
ribonucleic 
acid 
Sponsors
Children's Hospital Affiliated to Medical College of Zhejiang University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: The inclusion criteria were as follows: 1. According to the criteria proposed by Holm in 1993 and revised by Cassidy in 2012, patients who meet the diagnostic criteria of Prader Willi syndrome include 6 main criteria, 11 secondary criteria and 8 supporting evidences. If the age is less than 3 years old and the total score is more than 5 points, the diagnosis can be made according to the main diagnostic criteria of 4 points; if the age is more than 3 years old and the total score is more than 8 points, the diagnosis can be made according to the main diagnostic criteria of 5 points. 2. Patients with clinical suspected PWS but clinical score does not meet the diagnostic criteria. 3. Subjects with unexplained central hypotonia and feeding difficulties in infancy.
Exclusion criteria
Exclusion criteria: Patients with Prader Willi syndrome have been identified or excluded by molecular genetics.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| hight;weight;clinical manifestation; | — |
Countries
China
Contacts
Public ContactZou Chaochun
Children's Hospital Affiliated to Medical College of Zhejiang University
Outcome results
None listed