Mental deficiency

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

C. F. Rocha and Paiva, C. L. A., Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities, vol. 13. pp. 2290-2298, 2014.

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 neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on.

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