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Abstract:

Abstract Background The Prader - Willi syndrome ( PWS ) is a disease of genetic origin . It is characterized by neonatal hypotonia , hypogonadism , hiperfagia leading to obesity , low stature , developmental delay , moderate mental retardation , abnormal behavior and characteristic facial appearance . It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11 - 13 . There are different genetic causes : paternal 15q11 - q13 deletion in 70% of patients , maternal uniparental disomy in the 20 - 25% and less than 5% have an imprinting defect . We present the results obtained in the transverse clinical - genetic study of 77 PWS patients . Patients and methods There has been realized the study of 374 suspected PWS patients . Cytogenetics studies of bands G and hybridization in situ fluorescent ( FISH ) and molecular genetics analysis of microsatellites , Southern blot , MS - PCR and sequenciation were carried out . Holm's criteria use for the correlation phenotype - genotype in 48 patients . Results PWS was confirmed in 77 patients , 46 deletion , 16 uniparental disomy , two imprinting defect and 13 only PWS methylation pattern . Significant differences do not observe in the correlation phenotype - genotype . Conclusions The frequencies of the molecular alterations , 71 .87 % deletion , 25 % UPD and 3 .12 % DI , they are similar to described in the literature . It presents the algorithm of diagnosis used with the MS - PCR as rapid technology to confirm PWS .
developmental delay
moderate mental retardation
abnormal behavior