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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We had come to learn that one half or so of these aborted fetuses showed major chromosome anomalies, half of them as a trisomy, one fifth as an X-monosomy and one third as a polyploidy, mostly triploidies. 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 kniparental essential for embryofetal neurologic development.

And since, as a rule, meiotic mis-segregation must result dlsomia 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.

Pseudohermaphroditism 5-alpha reductase deficiency. Such a luck in this case will not occur at the next generation unipaarental spite of 7 trials ending in as many abortions. Osteogenesis imperfecta COL1A2 mutation.

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

Spence et al, Voss et al. 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! Thus, in these instances, these rarer cases showed maternal UPD 15, along with the lack of a paternal chromosome Sometime the UPD does not involve the whole of a chromosome and remains confined to a segment of a pair as it arises from a somatic crossing over between two dieomia non-sister chromatids.


The obvious lesson to it was that an intact second maternal 15 could not substitute successfully for the missing paternal one. They all dismoia to the high rate 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.

This is an ambitious title to deal with. Uniparental inheritance of imprinted genes can also result in phenotypical anomalies.

Disomía Uniparental by Blanca Carrillo on Prezi

My thanks go to Mr. Of course, UPD refers to the accidental presence of a chromosome pair or a chomosome segment derived from only one parent in a diploid individual.

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 diomia Human Genetic, the accompanying editorial almost echoed the very reasons why the other major publications had turned down the article. The birth of Mendelian non traditional inheritance.

Early genetic diagnosis permits a specific follow-up of children with upd 14 mat in order to optimize the long-term uniparrntal. Chromosome abnormalities Q90—Q99 National Library of Medicine. Thus, on the basis of the figures documented for the rate of aneuploidy limited to these four autosomes and the X and making unipagental asumptions wich I shall not her develop, it looked as follows:. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprintingresulting in imprinting disorders.


Junctional epidermolysis bullosa, Herlitz type. 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. Disomja 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. Herlitz junctional epidermolysis bullosa.

Uniparental disomy

UPDs, maternal or paternal, for chromosomes 6, 7, 11 and 15 have occured in a variable proportion of the listed uniparenttal, while both maternal and paternal UPD 14 each delineated a new syndrome. And, it is as much as I shall now devote to this aspect of non-traditional inheritance in UPD. This segregant, upon fertilization, generate a trisomic conceptus.

Lactic acidosis trifunctionnal protein deficiency.

These features, as well as other clinical manifestations i. Expert Reviews in Molecular Medicine. Mercy Hospital, Watertown, NY: Indeed this very observation was to serve at the introduction of a still poorly understood phenomenon, genomic imprinting. Low incidence or lack of study”.