Prader–Willi syndrome (PWS) is a rare genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include...
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first described the syndrome in 1965. An older term, happy puppet syndrome, is generally considered pejorative. Prader–Willi syndrome is a separate condition...
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deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf–Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome. The chromosomal...
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"Refining Behavioral Phenotypes: Personality—Motivation in Williams and Prader-Willi Syndromes". American Journal on Mental Retardation. 104 (2): 158–69. doi:10...
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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
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Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are...
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diseases, e.g., Graves' disease, and it has also been noted in Prader–Willi syndrome and other genetic conditions caused by chromosomal anomalies. It...
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Eventually, this disorder was ruled distinct from a syndrome presented by Prader and Willi (Prader-Willi syndrome) because of its mode of inheritance, gynecomastia...
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imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, and Beckwith–Wiedemann syndrome), Silver–Russell syndrome may be associated with the...
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hydroxymethyltransferase Charcot-Marie-Tooth disease Potocki-Lupski syndrome Prader-Willi syndrome Bi, W; Yan, J; Stankiewicz, P; Park, SS; Walz, K; Boerkoel,...
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the result of Prader–Willi Syndrome. Vallejo was born in the small village of Merindad de Montija, Burgos, Spain in 1674, to Antonia de la Bodega and...
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include Prader–Willi syndrome, Coffin–Lowry syndrome, Klinefelter syndrome, Wilson–Turner syndrome, Bardet–Biedl syndrome, Smith–Fineman–Myers syndrome (Chudley-Lowry...
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is an experimental antiobesity drug being tested in people with Prader-Willi syndrome and monogenic obesity caused by mutations in the SH2B1, PCSK1, or...
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Special Housing Project, a residential facility for people with Prader-Willi Syndrome, which de Lone's son Richard is afflicted with. As part of the 2007 event...
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Potocki–Shaffer syndrome Potter sequence Prader–Willi syndrome Pre-excitation syndrome Precordial catch syndrome Premenstrual syndrome Presumed ocular...
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1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures...
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as Patau syndrome, as well as hereditary neuralgic amyotrophy. It can also be associated with fragile X syndrome and Prader–Willi syndrome. Metopic synostosis...
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Hypotonia (redirect from Floppy Baby Syndrome)
Noonan syndrome Neurofibromatosis Patau syndrome a.k.a. trisomy 13 Pituitary dwarfism/growth hormone deficiency(in adults) PURA syndrome Prader–Willi syndrome...
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Pierre Robin syndrome Poland syndrome Polydactyly Polymelia Polysyndactyly Prader–Willi syndrome Proteus syndrome Prune belly syndrome Radial aplasia...
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Non-coding RNA (section Prader–Willi syndrome)
snoRNA SNORD116 has been shown to be the primary cause of Prader–Willi syndrome. Prader–Willi is a developmental disorder associated with over-eating and...
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including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. Some syndromes, including Angelman syndrome and Prader-Willi syndrome, are associated...
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Genomic imprinting (section Prader-Willi/Angelman)
diseases involving genomic imprinting include Angelman, Prader–Willi, and Beckwith–Wiedemann syndromes. Methylation defects have also been associated with...
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Medicine, specializing in Fragile X syndrome, Prader-Willi syndrome, and in research on the relationship of Fragile X syndrome to other conditions, including...
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disabilities; for example, Prader–Willi syndrome and Smith–Magenis syndrome. Studies have shown that 85% of people with Prader–Willi syndrome also engage in skin-picking...
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Central sleep apnea (redirect from Central sleep apnoea syndrome)
fall under a prevalence rate of 4-6%. For children diagnosed with Prader-Willi syndrome (PWS), CSA is more common and can occur in up to 53% of cases. Research...
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Isodicentric 15 (redirect from Isodicentric chromosome 15 syndrome)
for the symptoms of idic(15) syndrome is the critical PWS/AS-region named after the Prader-Willi and/or Angelman syndromes.[citation needed] For more than...
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Post-polio syndrome Postherpetic neuralgia Posttraumatic stress disorder Postural hypotension Postural orthostatic tachycardia syndrome Prader–Willi syndrome Primary...
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allele. Disruption of the imprinting at this locus may contribute to Prader–Willi syndrome. An antisense RNA of unknown function has been found overlapping...
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genetics on a chromosomal scale, shown by the 1950s discovery of Prader–Willi syndrome, a type of obesity caused by chromosome alterations. Additionally...
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contributions to the discovery of the genetic causes of Prader–Willi and Miller–Dieker syndromes. His research has focused on developing and applying technologies...
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