Travieso TA, Menéndez GR, Licourt OD

Language: Spanish
References: 11
Page: 974-982
PDF size: 150.19 Kb.

ABSTRACT

Introduction: Prader-Willi syndrome is a genetic disorder caused by deleted or unexpressed genes contained in 15q11-q13 region of paternal chromosome.
Objective: to describe clinical and genetic characteristics of patients with Prader- Willi syndrome.
Material and method: a descriptive, cross-sectional study was conducted in 15 patients with Prader-Willi suspect, who were referred to the provincial office of Clinical Genetics during 2013. As clinical variables the diagnostic criteria of Holms were considered and as genetic variables, the results of chromosomal and molecular studies.
Results: female sex prevailed in 66.7%. Ages were between 3 and 41. Most frequent major criteria were troncular obesity and neurodevelopment retardation in 100% of the patients. The minor criteria more identified were: sleep disturbances and speech difficulties (66.7% each one). None of the cases presented chromosomal anomalies because of karyotype classification. Three patients (60%) presented deletion at 15q11-q13 region level, which was identified by hybridization in situ with fluorescence.
Conclusions: in the province a definitive diagnosis was delayed. A reassessment is required according to the clinical criteria during the different stages of life in order to achieve a definitive diagnosis. The presence of neonatal hypotonia and difficulties in feeding are associated elements to the diagnosis of 15q11-q13 deletion.

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