DISSOMIA UNIPARENTAL PDF

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.

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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.

Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. 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. Disease definition Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Additional information Further information on this disease Classification s 3 Gene s 0 Clinical signs and symptoms Publications in PubMed Other website s 2. Health care resources for this disease Expert centres Diagnostic tests 60 Patient organisations 34 Orphan designation s and orphan drug s 0.

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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. It can also occur during trisomic rescue.

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A unique feature to imprinted conditions is the unusual situation in which a child inherits both copies of a chromosome from one parent and none from the other. This is known as uniparental disomy UPD. Uniparental disomy usually arises due to an error in meiosis. Two chromosomes in either the egg or sperm cell fail to separate and both get passed to the fetus. As a result, the fetus inherits three chromosomes trisomy rather than two. In relatively rare situations, one of the three chromosomes is lost termed trisomy rescue , resulting in a 'normal' two-chromosome state disomic after fertilization.

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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. Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Other search option s Alphabetical list.

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