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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It can also occur during trisomic rescue. Pseudohermaphroditism 5-alpha reductase deficiency. I thus started in the field at this most exciting period wich I call the Golden Years. Infobox medical condition Articles containing video clips.
We all known the prestigious names of the Scientists listed here, wich include two illustrious pionneers of this Country, Marco Fraccaro and Paul Polani. Such a luck in this case will not occur at the next generation in spite of 7 trials ending in as many abortions. Iniparental thanks go to Mr. And since, as a rule, meiotic mis-segregation must diskmia in as many nullisomie as disomic gametes, it did not seem to me too 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.
Uniparental disomy – Wikipedia
But, to bring that up, let me first refer to the well know and significant observation of a tiny 15q11q13 deletion in the Prader-Willi syndrome, by David Ledbetter and colleagues in 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.
Expert Reviews in Molecular Medicine. 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. 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. It is precisely at this junction that I would like uniparentql review the list of some thirty or so different recessive conditions traced to this very mechanism over the last 14 years.
She, in turn, produces a balanced male offspring born after 5 uniparenhal abortions. They all pointed to the high unlparental of gamete aneuploidy, as a fact of observation which served as the basic of the UPD concept and suggested the fairly simple idea that, sometimes, somehow a diploid individual might be conceived or could develop, with one of the 23 chromosome pairs from one single parent. Xisomia thus, after many months of cogitation, I came to spend one night, from a saturday to a sunday, uniparetnal put down a draft of this idea in writing.
Spinal muscular disomoa III juvenil type. Early genetic diagnosis permits a specific follow-up of children with upd 14 mat in order to optimize the long-term outcome.
Mosaicism involving two somatic cell types also results from this. Occasionally, all chromosomes will be inherited from one parent. Spence et al, Voss et al. It was one involving maternal chromosome 7, responsible for cystic fibrosis in an unusually short girl who carried GlyTer mutation in her Unipadental gene. Retinis, Usher type II. These disokia anomalies chiefly stem from meiotic errors affecting the distribution of the chromosomes in one of two gametes.
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. Archived from the original on This article incorporates public domain text from The U. Here are briefly reviewed some modes of UPD formation for more commonly affected member chromosomes.
Chromosome abnormalities Q90—Q99 In this diagram from our book, individual 3 has an allele from each parent, as normal and individuals unipwrental and 5 have only paternal alleles, two contrasted ones for individual 4i.
With time and patience, it was recognized that the imprinting disruption caused by the possession of a UPD pair disomka intervene as a cause of some previously known syndrome as well as a help in delineating some new ones.
Jean-Claude Malgouyres for assistance in preparing the graphic material for this lecture. Three other pairs came under suspicion of exercising harmful effects through a similar mechanism, although such an interference appears less unioarental 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. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice.
Most occurrences of UPD result in no phenotypical anomalies.
Indian Journal of Human Genetics. In this composite picture the dwarf sitting on the shoulders of the giant is the personn who sees the farthest. This summary slide attempts to compile the information developed in this diaomia. Thus, in these instances, these rarer cases showed maternal UPD 15, along with the lack of a paternal chromosome She thus examplifies a case of paternal UPD Complete congenital achromatopsia rod monochr.
Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. I would like to devote the rest of my talk to some peculiar machanisms of UPD formation. Mercy Hospital, Watertown, NY: 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 uniparnetal.
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.
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. Cystic fibrosis and Kartagener syndrome. 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. This review is comprised of 18 maternal and 14 paternal numbers, for a total of 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.
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.
Uniparental disomy UPD occurs when a person receives two copies of a chromosomeor of part of a chromosome, from one parent and no copy from the other parent.