Erratum to: An Interstitial 15q11-q14 Deletion: Expanded Prader-Willi Syndrome Phenotype (DOI 10.1002/ajmg.a.33197; Am J Med Genet Part A 152A:404-408)
نویسندگان
چکیده
منابع مشابه
Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region.
Prader-Willi syndrome (PWS) is characterised by infantile hypotonia, feeding difficulties, hypogonadism, small hands and feet, mental deficiency, obesity in early childhood, a particular facial appearance, and a paternally derived 15q11-q13 deletion (approximately 4 million bp in size) in about 70% of subjects, maternal disomy 15 (both 15s from the mother) in 25% of subjects, or an imprinting m...
متن کاملNeural correlates of task switching in paternal 15q11-q13 deletion Prader-Willi syndrome.
We report a first study of brain activity linked to task switching in individuals with Prader-Willi syndrome (PWS). PWS individuals show a specific cognitive deficit in task switching which may be associated with the display of temper outbursts and repetitive questioning. The performance of participants with PWS and typically developing controls was matched in a cued task switching procedure, a...
متن کاملErratum: Postprandial metabolism in adults with prader-willi syndrome.
OBJECTIVE Individuals with Prader-Willi syndrome (PWS) are commonly restricted to 60-75% of height-appropriate calorie intake because they rapidly become obese on a normal diet. This study measured changes in energy expenditure, glucose and lipid homeostasis, and metabolic flexibility in response to a meal in PWS adults. METHODS 11 adults with PWS were compared with 12 adiposity-matched and 1...
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...
متن کاملPrader-Willi syndrome.
Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2010
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.33403