Article
Case of 15q26-qter deletion associated with a Prader-Willi phenotype.
European journal of medical genetics - 1 Aug 2020
Santos Jéssica Fernandes Dos, Acosta Angelina Xavier, Scheibler Gabriela Gayer, Pitanga Paula Monique Leite, Alves Esmeralda Santos, Meira Joanna Goes Castro, Zanardo Évelin Aline, Kulikowski Leslie Domenici, Lima Renata Lúcia Leite Ferreira de, Carvalho Acácia Fernandes Lacerda de
Abstract excerpt
Prader-Willi syndrome (PWS) is one of the common neurogenetic disorders associated with intellectual disability. PWS involves a complex inheritance pattern and is caused by an absence of gene expression on the paternally inherited 15q11.2-q13 region, either due to deletion, maternal uniparental disomy or imprinting defect. The syndrome is characterized principally by severe neonatal hypotonia, a weak suck in...
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