This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly.
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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. This disease is described under Angelman syndrome. Detailed information. Other search option s Alphabetical list.
Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Summary This disease is described under Angelman syndrome. Additional information Further information on this disease Classification s 4 Gene s 1 Other website s 3. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 79 Orphan designation s and orphan drug s 2.
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Paternal uniparental disomy of chromosome 14
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. This disease is described under Angelman syndrome. Detailed information.
What are genomic imprinting and uniparental disomy?
Uniparental disomy UPD occurs when a person receives two copies of a chromosome , or of part of a chromosome, from one parent and no copy from the other parent. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting , resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity , which may lead to the uncovering of recessive genes, a similar phenomenon seen in inbred children of consanguineous partners. UPD has been found to occur in about 1 in 2, births. UPD can occur as a random event during the formation of egg cells or sperm cells or may happen in early fetal development.