Mol Syndromol. May;8(3) doi: / Epub Feb Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a. La disomía uniparental es una patología en la cual las dos copias de un cromosoma son heredadas de un mismo progenitor, en lugar de que. La disomía uniparental hace referencia a la situación en la que las dos copias de un cromosoma provienen del mismo progenitor, en lugar de que una copia.

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Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.

We had come to learn that one half or so of these aborted fetuses showed major chromosome anomalies, half of them as a trisomy, one fifth as an X-monosomy and one unipagental as a polyploidy, mostly triploidies. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners.

On the other hand, two thirds of the bearers of homologous centric fusions will display a uniparental pair for the involved number. Cystic fibrosis and Kartagener unipraental. Once in print and published, the idea slept in the medical literature for some years because, at the time of the publication, the means to trace the parental origin of a chromosome were still limited, awaiting the analyses of DNA polymorphisms as schematically shown here.

On this next slide, we show somewhat arbitrarily the chromosome numbers, maternal or paternal, which have contributed a monoparental pair in the make up of one purely and uniformly diploid genome, assuming that the available information allowed an exclusion of the mosaic compounded by an aneuploid component. Most remarkable, is not it? I would like to devote the rest of my talk to some peculiar machanisms of UPD formation. However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome isodisomyleading to the manifestation of rare recessive disorders.

Disomía Uniparental by Blanca Carrillo on Prezi

Given the four constrated alleles of a particular locus in two parents, each one can be traced through appropriate enzyme restriction, gel electrophoresis and adequate marking. This includes chromosomes 2, 5—11, 13—16, 21 and Obesity after initial failure to thrive developed, while compulsive eating habits were not present, which was helpful for the clinical differential diagnosis of Prader-Willi syndrome. It was one involving maternal chromosome 7, responsible for cystic fibrosis in an unusually short girl who carried GlyTer mutation in her CFTR gene.


And this is precisely the mechanism which helped these investigators to uncover the first thoroughly analyzed and described case of UPD. This summary slide attempts to compile the information developed in this presentation.

Early genetic diagnosis permits a specific follow-up of children with upd 14 mat in order to optimize the long-term outcome. Herlitz junctional epidermolysis bullosa.

Chromosome abnormalities Q90—Q99jniparental From Wikipedia, the free encyclopedia. Some were discovered because of ujiparental to homozygosity causing recesive traits, while others involved imprinted domains and disrupted them. Also it is of note that if this duplicated allele was that of a recessive trait, the individual would be affected. An adjacent segregation has resulted into a nullisomy 14 in a paternal gamete whose deletion has been apparently patched up by duplication of the maternal 14 into an isochromosome, after fertilization.

Edward Spence, Ronald G. These features, as well as other clinical manifestations i.

UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development. I also want to mention the wealth of information and observations that we owe to Unipraental A Schinzel and his group and to Dr Dietrich Kotzot in this area. Spence et al, Voss et al. Thus, in these instances, these rarer cases showed maternal UPD 15, along with the lack uni;arental a paternal chromosome By using this site, you agree to the Terms of Use and Privacy Policy.

And, it is as much as I shall now devote to this aspect of non-traditional inheritance in UPD.

This is an ambitious title to deal diaomia. And thus, after many months of cogitation, I came to spend one night, from a saturday to a sunday, to put down a draft of this idea in writing. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprintingresulting in imprinting disorders.


American Journal of Medical Genetics 6: Besides, in the case yniparental Eggerding et al, the short arm isochromosome 7 was paternal ad the isochromosome for the long arm was maternal in origin.

Mosaicism involving two somatic cell types also results from this. Interestingly enough the journal Science rejected this report, apparently for describing a situation too exceptional for umiparental broad readership; and, while unipardntal for publication by the American Journal of Human Genetic, the accompanying editorial almost echoed the very reasons why the other major publications had turned down the article.

Other notable discoveries occurred in the sixties in our field, including the sighting of some tiny deletions, but, just as happened in the early years of photography, the chromosomes appeared uniformely dark over a clear white background. Retrieved from ” https: In this diagram from our book, individual 3 has an allele from each parent, as normal and individuals 4 and 5 have only paternal alleles, two contrasted ones for individual 4i.

And so on for several other UPDs causing a proportion of syndromic conditions of reasonably well documented overall frequencies. Chromosome preparations of leukocytes cultured from human peripheral uniparenhal Exp Uniparenntal Research20, In this context, the opportunity of using a few drops of venous blood for short term culture and chromosome studies with Phytohemagglutinin for blast tranformation of monolymphocytes represented a boon to all interested personnel.

Indeed this very observation was to serve at the introduction of a still poorly understood phenomenon, genomic imprinting.

Both these slides show the pace at which these uniparental pairs were uncovered since the first ones were identified. As a result, recessive traits can be expressed. National Library of Medicine.

Expert Reviews in Molecular Medicine.