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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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. A detailed cytogenetic and molecular characterization of the genomic rearrangement is presented. Also it is of note that if this duplicated allele was that of a recessive trait, the individual would be affected.

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

Specific fluorescence of R and G bands in human chromosomes. I unipraental selected these examples because, to me, they illustrate some incredible twists of Nature.

I thus started in the field at this most exciting period wich I call the Golden Years. 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. 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.

Lactic acidosis trifunctionnal protein deficiency. American Journal of Human Genetics.

parental disomy

Many more are documented in the 5 years from 91 to 95 and still quite a few are observed in the last 7 years till now, to the best of my knowledge. Uniparrental 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 uniparenatl of the mosaic compounded by an aneuploid component.

Retinis, Usher type II. If that were to happen what might be the occasionnal consequences of deriving one chromosome from one parent only? My thanks go to Mr.

O’Brien and Arthur L. She, in turn, produces a balanced male offspring born after 5 spontaneous abortions. Therefore, in this instance, although normal looking, the second maternal chromosome 15 was lacking the genetic expression of a proper paternal one. With time uniparentsl 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.

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In fact, the information on this subject has grown so large that Pub Med, the webb-site of the US National Library of Medecine, by now lists over original titles not to mention the so-call related articles. UPDs, maternal or paternal, for chromosomes 6, 7, 11 and 15 have occured in a variable proportion of the listed syndromes, while both maternal and paternal UPD 14 each delineated a new syndrome. On this slide are presented examples unipaarental both types of segmental UPD, terminal or interstitial, as found for various chromosomes, 4, 6, 7, 11, 14, These karyotypic anomalies chiefly uniparetal from meiotic errors affecting the distribution of the chromosomes in one of two gametes.

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

This information not only implies uhiparental 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. Archived from the original on This review is comprised of 18 maternal and 14 paternal numbers, for a total of Interestingly enough the journal Science rejected this report, apparently for describing a situation too exceptional for a broad readership; and, while accepted 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.

Chromosome preparations of leukocytes cultured from human peripheral blood Exp Cell Research20, Why was it so? In addition, the boy presented with many phenotypic features associated with upd 14 mat along with hypoesthesia to pain, previously unreported in this disorder, and bilateral cryptorchidism, also rarely described. Herlitz junctional epidermolysis bullosa. Within two of these years, andthe three major autosomal trisomies, G, E, and D, namely 21, 18 and 13 turned up along with three of the four more common sex chromosome anomalies.

Thus, on the basis of the figures documented for the rate of aneuploidy uniparenyal to these four autosomes and the X and making some asumptions wich I shall not her develop, it looked as follows:. National Library of Medicine. On ths slide, precisely, a pattern of homologous centric fusion for chromosome 22 is found in a woman who aborts ten times in a row before producing a normal female offspring who, in turn, in due time will abort seven times.

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It was Rob Nicholls and colleagues’ merit to establish that in the rarer cases of PWS without the tiny disimia, a chromosome pair 15 looked pink, painted exclusively of maternally segregating alleles and markers!!

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

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.

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. Chromosome abnormalities Q90—Q99 I first aim at showing the role of some so-called non homologous or homologous Robertsonian translocations or centric fusions of acrocentric chromosomes.

Three other pairs came under suspicion of exercising harmful effects through a similar mechanism, although such an interference appears less and less certain for maternal chromosome 2, still quite likely for maternal chromosome 16 and definite for chromosome 20, both paternal and maternal, a topic in full evolution. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprintingresulting in imprinting disorders.

This includes chromosomes 2, 5—11, 13—16, 21 and Fielding Hejtmancik, Marilyn S. Mercy Hospital, Watertown, NY: When interstitial, the segmental UPD results from two symmetrical breaks, which are shown here as the result of an interchromatid kiss! This slide shows a source to find more information from a book written witn my friend and Colleague Stylianos Emmanuel Antonarakis which was published in by Liss-Wiley in New York. 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.

It will be interesting to see which others will be detected in the forthcoming years to finally assume that those never seen are, may-be, lethal. 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.