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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Once in print and published, the idea disomiaa 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, disomiw the analyses of DNA polymorphisms as schematically shown here.

By using this site, you agree to the Terms of Use and Privacy Policy. In this composite picture the dwarf sitting on the shoulders of the giant is the personn who sees the farthest.

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. It did take wonderful eyes to detect uniparwntal a small, albeit most important cytogenetics detail!

My thanks go to Mr.

You see here, at first glance, a non-homologous uniaprental translocation which, through an adjacent meiotic separation, produces a disomic gamete.

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.

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

Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. Lactic acidosis trifunctionnal protein deficiency.


I have selected these examples because, to me, they illustrate some incredible twists of Nature. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprintingresulting in imprinting disorders. A detailed cytogenetic and molecular characterization of the genomic rearrangement is presented.

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. Low incidence or lack of study”. Osteogenesis imperfecta COL1A2 mutation. These features, as well as other clinical manifestations i. The birth of Mendelian non traditional inheritance.

Such a luck in this case will not occur at the next generation in spite of 7 trials ending in as many abortions. Infobox medical condition Articles containing video clips. In other instances the segmental UPD is terminal and results from a single symmetrical break in each of two homologous non-sister chromatids, as seen here.

Uniparental disomy – Wikipedia

This information not only implies the remarkable frequency of gonocyte aneuploidy but also reveals the pre 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. If UPD must result, of two possible new hits, one will take off the singly inherited number, leaving behind a UPD pair made of one free and one attached acrocentric chromosome.

Both 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. 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.


The obvious lesson to it was that an intact second maternal 15 could not substitute successfully for the missing paternal one. Archived from the original on Herlitz junctional epidermolysis bullosa. I first aim at showing the role of some so-called non homologous or homologous Robertsonian translocations or centric fusions of acrocentric chromosomes. It was one involving maternal chromosome 7, responsible for cystic fibrosis in an unusually short girl who carried Disomis mutation in her CFTR gene.

Uniparental disomy

I now turn to another major player in the field of UPD, brought into action by Rob Nicholls et al, the phenomenon of genomic imprinting. Obesity after initial failure to thrive developed, while compulsive eating habits were not present, which was dksomia for the clinical differential diagnosis of Prader-Willi syndrome.

And this is precisely the mechanism which helped these investigators to uncover the first thoroughly analyzed and described case of UPD. This is unipadental ambitious title to deal with.

I also want to mention the wealth disomix information and observations that we owe to Pr A Schinzel and his group and to Dr Dietrich Kotzot in this area.