48,868
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Difference between revisions of "Pediatric pathology"
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→Angelmann syndrome: more, refs
(→Syndromes: +angelman) |
(→Angelmann syndrome: more, refs) |
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| Line 12: | Line 12: | ||
===General=== | ===General=== | ||
*Loss of a gene on | *Loss of a gene on 15q. | ||
**May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome). | **May be due to genetic imprinting disorder, i.e. only maternal gene imprinting pattern is present (due to loss of the paternal chromosome).<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/105830 http://www.ncbi.nlm.nih.gov/omim/105830]. Accessed on: 28 January 2011.</ref> | ||
*Mental retardation. | *Mental retardation. | ||
Notes: | |||
*Loss of the maternal imprinting pattern on 15q leads to Prader-Willi syndrome.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/176270 http://www.ncbi.nlm.nih.gov/omim/176270]. Accessed on: 28 January 2011.</ref> | |||
=Gastrointestinal pathology= | =Gastrointestinal pathology= | ||