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Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes

Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes. Gene imprinted (turned off). Gene not imprinted (turned on). D e l e t e d. D e l e t e d. Paternal DNA. Maternal DNA. Prader-Willi Syndrome. Angelman Syndrome.

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Chromosomal Microdeletions: Prader-Willi and Angelman Syndromes

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  1. Chromosomal Microdeletions:Prader-Willi and Angelman Syndromes

  2. Gene imprinted (turned off) Gene not imprinted (turned on) D e l e t e d D e l e t e d PaternalDNA MaternalDNA Prader-WilliSyndrome AngelmanSyndrome

  3. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?tool=bookshelf&call=bv.View..ShowSection&searchterm=prader&rid=gnd.section.182http://www.ncbi.nlm.nih.gov/books/bv.fcgi?tool=bookshelf&call=bv.View..ShowSection&searchterm=prader&rid=gnd.section.182

  4. http://www.mgm.ufl.edu/faculty/DDriscoll.htm

  5. Prader-Willi Syndrome Cause: • Usually caused by micro deletion in region q11-13 of the paternally transmitted chromosome 15. • Several genes in this region are genomically imprinted in the maternal chromosome. • Hence, if there is a paternal deletion in this region, there are no active genes. Symptoms: • Short stature • Mental retardation, learning difficulties • Decreased muscle tone • Hypogonadism • Emotional lability • Unregulated appetite or hyperphagia ( obesity)

  6. Prader Willi Syndrome http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg

  7. Tanis, a girl with PWS http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg

  8. Angelman Syndrome Cause: Microdeletion of region q11-13 of chromosome 15 that deletes agene(s) that is paternally imprinted. Symptoms: • Normal development until 6-12 months, then delayed development • Disproportionate head growth  microcephaly • Abnormal EEG, seizures • Marked deficit in language (no words to a few words) but better communication using nonvebral methods (e.g., facial expressions) • Motoric problems (balance problems, ataxia of gait, hypermotoric actions) • Attention problems (short attention span) • Emotional exuberance (frequent laughter, smiling)

  9. Angelman Syndrome http://asclepius.com/angel/phopag.html

  10. Angelman Syndrome http://asclepius.com/angel/phopag2.html

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