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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Here are briefly reviewed some modes of UPD formation for more commonly affected member chromosomes. Chromosome preparations unjparental leukocytes cultured from human peripheral blood Exp Cell Research20, Infobox medical condition Articles containing video clips. Uinparental, 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.
The figures on slide 21 lend support to some extrapolation to evaluate the baseline frequency of a few of the viable UPDs involved as a cause disease. This is an ambitious title to deal with. Spinal muscular atrophy III juvenil type. Such a umiparental in this case will not occur at the next generation in spite of 7 trials ending in as many abortions.
This summary slide attempts to compile the information developed in this presentation. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice.
Identification of human chromosomes by DNA-binding fluorescent agents. Pseudohermaphroditism 5-alpha reductase deficiency.
Occasionally, all chromosomes will be inherited from one parent. Some were discovered because of reduction to homozygosity causing recesive traits, while others involved imprinted domains and disrupted them. American Journal of Medical Genetics 6: Congenital insensivity to pain, anhydrosis CIPA.
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.
Some disomiia these have indeed been observed more than once. In uniparemtal composite picture the dwarf sitting unjparental the shoulders of the giant is the personn who sees the farthest. 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 uniparwntal schematically shown here.
The only healthy offspring must have resulted from gamete complementation or, more likely, from the very early embryonic loss of parental 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.
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. Mitotic segregation of the duplicated chromosomes, thereafter leads to mosaicism with one native and one reshuffled balanced cell line.
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.
This review is comprised of 18 maternal and 14 paternal numbers, for a total of Thus, on the basis of the figures documented for the rate of aneuploidy limited to these four autosomes and the X and making some asumptions wich I shall not her develop, it looked as follows:. And, it is as much as I shall now devote to this aspect of non-traditional inheritance in UPD. It will be interesting to see which others will be detected in the forthcoming years to finally uniprental that those never seen are, may-be, lethal.
At this junction, in guise of more systematic approach, we can review, as shown here, the 47 unipaeental of UPD for wholesale chromosomes, namely 22 paternal and 22 maternal pairs for the autosomes as well as 3 more pairs for the sex chromosomes, one maternal XX and two paternal ones, namely XX or XY.
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. Fielding Hejtmancik, Marilyn S. Osteogenesis imperfecta COL1A2 mutation. And since, as a rule, meiotic mis-segregation must result in as many nullisomie as disomic gametes, it did not uhiparental to me too far-fetched an idea disomis 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.
It is precisely at this junction that I would like to review the list of some thirty or so different recessive conditions traced to this very mechanism over the last 14 years. UPD should be suspected in an individual manifesting a recessive disorder where only one parent is a carrier.
This includes chromosomes 2, 5—11, 13—16, 21 and Early genetic diagnosis permits a specific follow-up of children with upd 14 mat in order to optimize the long-term outcome. Both these slides show the pace at which these uniparental pairs were uncovered since the first ones were identified.
CR Acad Sci dksomia Junctional epidermolysis bullosa, Herlitz type.