PRADER-WILLI SYNDROME IDENTIFIED BY METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION (MS-MLPA)

• Main Authors: Simona Loredana Vasilache (Author), Adelina Micheu (Author), Claudia Banescu (Author), Valeriu Moldovan (Author), Carmen Duicu (Author), Ionela Maria Pascanu (Author), Oana Marginean (Author)
• Format: Book
• Published: Amaltea Medical Publishing House, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three major genetic subtypes in PWS: paternal 15q11-q13 deletion (70% of cases), maternal uniparental disomy 15 (25-30%)...