DISOMIA UNIPARENTAL PDF

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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Van den Berg Loonen. It did take wonderful eyes to detect such a small, albeit most important cytogenetics detail! Thank you, indeed for your hospitality. It is precisely at this junction that I would like to review the list of some thirty or dixomia different recessive conditions traced to this very mechanism over the last 14 years.

Some of these have indeed been observed more than once. Bloom syndrome with Prader-Willi syndrome. Complete congenital achromatopsia rod monochr. Such a luck in this case will not occur at the next generation in spite of 7 trials ending in as many abortions.

Retrieved from ” https: Thus some 15 numbers are still currently without inclusion in a uniparental pair, if we disregard paternal 20 and paternal X, so far only noted in an aneuploid mosaic context. Uniparental inheritance of imprinted genes can also result in phenotypical anomalies.

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.

CR Acad Sci With time and patience, it was recognized that the imprinting disruption caused by the possession of a UPD pair could intervene as a cause of some previously known syndrome as well as a help in delineating some new ones. It was one involving idsomia chromosome 7, responsible for cystic fibrosis in an unusually short girl who carried GlyTer mutation in her CFTR gene.

Spence et al, Voss et al. The figures on slide 21 lend support to some extrapolation to evaluate the baseline frequency of uniparetal few of the viable UPDs involved as a cause visomia. Occasionally, all chromosomes will be inherited from one parent.

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Jean-Claude Malgouyres for assistance in preparing the graphic material for this lecture. Mosaicism involving two somatic cell types also results from this.

Orphanet: Disomia uniparental del cromosoma 15 de origen paterno UPDP15

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. On this slide are presented examples of both types of segmental UPD, terminal or interstitial, as found for various chromosomes, 4, 6, 7, 11, 14, Therefore, in this instance, although normal looking, the second maternal chromosome 15 was lacking the genetic expression of a proper paternal one.

You see here, at first glance, a non-homologous balanced translocation which, through an adjacent meiotic separation, produces a disomic gamete. Expert Reviews in Molecular Medicine. Retrieved 11 June It also offered a most comprehensive review of the possible mechanisms leading to the occurrence of UDP.

We only see a few in the first decade following publication of the concept. The absence of specific disomai malformations makes this condition underdiagnosed in clinical practice.

Uniparental disomy

Uniparental disomy UPD occurs when a person receives two copies of uniprental chromosomeor of part of a chromosome, from one parent and no copy from the other parent. And since, as a rule, meiotic mis-segregation must result in as many nullisomie as disomic gametes, it did not seem to me uniparenfal far-fetched an idea to statistically envisage the following possibility, namely that coincidental fertilization and complementation of a nullisomic gamete by one disomic for a same chromosome might indeed occur, thus occasionally causing a diploid conceptus to derive one pair from only one parent.

Junctional epidermolysis bullosa, Herlitz type. By using this site, you agree to the Terms of Use and Privacy Policy.

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

Unipardntal paternal and maternal chromosome 20 show an imprinting mark, which, on the maternal side, allows sensitivity to parathormone and, on the paternal side, expresses a protein essential for embryofetal neurologic development. It was Rob Nicholls and colleagues’ merit to establish that in the rarer cases of PWS without the tiny deletion, a chromosome pair 15 looked pink, painted exclusively of maternally segregating alleles and markers!!

Dealing in more details into this siuation, we see that eggs with the segregation of this homologous centric fusion can, upon fertilization, only produce monosomic or trisomic 22 inviable abortion products!

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I particulary like to stress the elegant contributions from Prs Lidia Larizza, Orsette Zuffardi and their colleagues on the role of parental chromosome 15 inversions in subsequent segmental deletions of that chromosome and their study of UBE3A mutations in AS. My last slide is a symbol of my indebtedness to the many Authors who gave so unlparental life to so simple an idea.

Lactic acidosis trifunctionnal protein deficiency. 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.

Pseudohermaphroditism 5-alpha reductase deficiency.

Some were discovered because of reduction to homozygosity causing recesive traits, while others involved imprinted domains and disrupted them. Besides, in the case of Eggerding et al, the short arm isochromosome 7 was paternal ad the isochromosome for the long arm was maternal in origin. Chromosome preparations of leukocytes cultured from human peripheral blood Exp Cell Research20, This slide shows what proportion of some well defined syndromes might be caused by a given uniparental pair proven responsible for disrupting the normal imprinting process.

Most remarkable, is not it? So far we have in this lecture followed two leads, one looking at the UPDs recognized as the cause of recessive traits, the other as a cause of malformations through the normal process of genomic imprinting.

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

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 disomua an isochromosome, after fertilization. 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.

Both these slides show the pace at which these uniparental pairs were uncovered since the first ones were identified.

Edward Spence, Ronald G.

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