AB058. Prader-Willi syndrome: clinical and genetic features
نویسندگان
چکیده
منابع مشابه
Prader-Willi Syndrome: Clinical Aspects
Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient's life. The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2-q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dys...
متن کاملPrader-Willi syndrome: genetic tests and clinical findings.
Here we describe the genetic studies performed in 53 patients with the suspected diagnosis of Prader-Willi syndrome (PWS). PWS is characterized by neonatal hypotonia, hypogonadism, delayed psychomotor development, hyperphagia, obesity, short stature, small hands and feet, learning disabilities, and obsessive-compulsive behavior. Through the methylation analysis of the SNRPN gene, microsatellite...
متن کاملRelationship between clinical and genetic diagnosis of Prader-Willi syndrome.
As part of a population based study of Prader-Willi syndrome (PWS), we have examined more closely the relationship between clinical and genetic diagnoses in a large number of people with established or suspected PWS. We report here on agreements and disagreements between clinical and genetic diagnoses. We consider whether a genetic diagnosis implies the presence of any one (or more) of the majo...
متن کاملClinical Case Conference Prader-Willi Syndrome
Prader-Willi syndrome is a genetic disorder characterized by mental retardation, dysmorphic features, and behavioral dysfunction, most notably food-related problems such as hyperphagia, food seeking, and a high risk for obesity (1). Although food-related symptoms are a hallmark of the disorder, other psychiatric manifestations are common and can lead to significant interference in the affected ...
متن کاملPrader-Willi Syndrome
Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2017
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2017.s058