Article
Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.
Genetics and molecular research : GMR - 31 Mar 2014
Rocha C F, Paiva C L A
Abstract excerpt
Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in...
Topics
- Chromosome Aberrations
- Diagnosis, Differential
- Female
- Humans
- Male
- Phenotype
- Prader-Willi Syndrome