{"id":152698,"date":"2010-01-04T11:01:40","date_gmt":"2010-01-04T15:01:40","guid":{"rendered":"http:\/\/www.treatgene.com\/?p=447"},"modified":"2010-04-02T01:19:42","modified_gmt":"2010-04-02T05:19:42","slug":"prader-willi-syndrome-%e2%80%93-genetic-disorder-that-cause-obesity","status":"publish","type":"post","link":"https:\/\/mereja.media\/index\/152698","title":{"rendered":"Prader-Willi Syndrome \u2013 Genetic Disorder That Cause Obesity"},"content":{"rendered":"

Prader-Willi syndrome<\/strong> or PWS syndrome<\/strong> is thought to be one of the most common genetic disorders. Prader-Willi syndrome<\/strong> and Angelman syndrome were the first examples in humans of genomic imprinting in Cytogenetics. Angelman syndrome has an entirely different clinical condition with PWS syndrome. I will explain about the Angelman syndrome in my future post.
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\nWhat is genomic imprinting? Imprinting is a type of marking process that has a memory. Genomic imprinting is where a segment of DNA is marked or imprinted during gametogenesis. This mark will be retained and recognized throughout the life of the individual. Maternal and paternal inherited alleles will be marked differently and are expressed differently in the offsprings. Therefore, the offspring with the same genetic material will have different appearances. The individual with Prader-Willi syndrome<\/strong> is because the loss of paternally inherited region 15q11 \u2013 q13 of chromosome 15. Simple to say, the PWS individual does not inherit the region 15q11 \u2013 q13 of chromosome<\/a> 15 from his\/her father but only from mother.<\/p>\n

\"prader-willi<\/a><\/p>\n

Prader-Willi syndrome<\/strong> is the most common genetic cause of marked obesity in humans according to Cytogenetics. It is a complex disorder with cardinal features of
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\ni)\u00a0 \u00a0\u00a0Infantile hypotonia (low muscle tone)
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\nii) \u00a0\u00a0Mild growth retardation
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\niii) \u00a0Frequent occurrence of breech presentation (baby enters the birth canal with the buttocks or feet first)
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\niv) \u00a0Small hands and feet with gracile and tapering fingers
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\nv)\u00a0 \u00a0Microcephaly (smaller head)
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\nvi) \u00a0Almond-shaped eyes
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\nvii) Mental deficiency (average IQ of 65)
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\nviii) Short stature and so on.
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\nFrom the age of about one and half years onward, hyperphagia becomes a serious problem, leading to gross obesity. Due to hyperphagia and gross obesity, diabetes often sets in during adolescence or later. Epilepsy is found in a minority of cases. Mental development is characterised by moderate to severe retardation with tendency to behaviour disorders, especially reactive to food deprivation. Patients with this syndrome may need specialists for assessment and treatment of their behavioural and learning problems, at the beginning of childhood. Prader-Willi syndrome<\/strong> is present in all races and ethnic groups and most cases are sporadic.
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\nIn conclusion, Prader-willi syndrome<\/strong> is a genetic disorder that needs treatment and assessment to overcome the learning problem and obesity problem of the patients. I will write a series of Prader-Willi syndrome in this Cytogenetics and Cancer Research blog<\/a> in order to give people a clear mind about this syndrome. Stay tuned! :) <\/p>\n