Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
نویسندگان
چکیده
منابع مشابه
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
PURPOSE Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS. METHODS A total of 211 PWS patients born from 1980 t...
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Flow cytometry and recombinant DNA techniques have been used to obtain reagents for a molecular analysis of the Prader-Willi syndrome (PWS). HindIII total-digest libraries were prepared in lambda phage Charon 21A from flow-sorted inverted duplicated no. 15 human chromosomes and propagated on recombination-proficient (LE392) and recBC-, sbcB- (DB1257) bacteria. Twelve distinct chromosome 15-spec...
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Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...
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This is the first population based study to estimate the birth prevalence of DNA proven Prader-Willi syndrome. Thirty infants were reported to the Australian Paediatric Surveillance Unit between 1998 and 2000, a prevalence of 4 per 100,000 live births or approximately 1/25,000 live births per annum.
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MATERIALS AND METHODS Fifty-nine PWS patients with the diagnosis confirmed by DNA methylation testing had regular and long term follow up at the Centre for Human Genetics in Leuven. For more then 10 years, these patients have been seen at least once a year by a clinical geneticist and a psychiatrist skilled in the assessment of people with learning disabilities. Detailed information on clinical...
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ژورنال
عنوان ژورنال: Annals of Pediatric Endocrinology & Metabolism
سال: 2015
ISSN: 2287-1012,2287-1292
DOI: 10.6065/apem.2015.20.1.40