Request PDF on ResearchGate | Uniparental Paternal Disomia as a Cause of Angelman Syndrome in a Five-Year Girl | Angelman syndrome (AS) is a. Check out my latest presentation built on , where anyone can create & share professional presentations, websites and photo albums in minutes. La disomie uniparentale (uniparental disomy (UPD)) est la prĂ©sence accidentelle d’une paire de chromosomes (ou de segments de chromosome) provenant.

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Infobox medical condition Articles containing video clips. Additional information Further information on this disease Classification s 3 Gene s 0 Clinical signs and symptoms Publications in PubMed Other website s 2.

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. Images in this article Figure 1 on p. This page was last edited on 26 Septemberat Some were discovered because of reduction to homozygosity causing recesive traits, while others involved imprinted domains and disrupted them.

Osteogenesis imperfecta COL1A2 mutation. 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 disomiaas abortion products!

On ths slide, precisely, a pattern of homologous centric fusion for chromosome 22 dissomias 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. Some of these have indeed been observed more than once. The documents contained in this web site are presented for information purposes only. It also offered a most comprehensive review of the possible mechanisms leading to the occurrence of UDP.

They all pointed 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 dieomias 23 chromosome pairs from one single parent. By using this site, you agree to the Terms of Use and Privacy Policy.


Views Read Edit View history. O’Brien and Arthur L.


UPD 9 mat Prevalence: Uniparenales 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 here.

Lack of X inactivation associated with maternal X isodisomy: An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation.

And, it is as much as I shall now devote to this aspect of non-traditional inheritance in UPD. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprintingresulting in imprinting disorders. Complete congenital achromatopsia rod monochr. 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.

Archived from the original on 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. This summary slide attempts to compile the information developed in this presentation.

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

It was one involving maternal chromosome 7, responsible for cystic fibrosis in an unusually short girl who carried GlyTer mutation in her CFTR gene. Discordance of muscular dystrophy in monozygotic female twins: As I just said earlier, the specfic identification, as of of individual chromosomes by fluorochromes pionnered thanks to Caperson, Zech et al.

Dsiomias disomy in humans: Lactic acidosis trifunctionnal protein deficiency. Check this box if you wish to receive a copy of disomiaas message. Retinis, Usher type II.

And since, as a rule, meiotic mis-segregation must result in as many nullisomie as disomic gametes, it did not seem to me too far-fetched an idea to statistically disomiaw 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. Besides, in the case of Eggerding et al, uniparentalex short arm isochromosome 7 was paternal ad the isochromosome for the long arm was maternal in origin.

National Center for Biotechnology InformationU.


Orphanet: Disomia uniparentale materna del cromosoma 9

Most occurrences of UPD result in no phenotypical anomalies. 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.

Retrieved 11 June 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.

Uniparentqles inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. We report here the case of a karyotypically normal female affected with DMD as a result of homozygosity for a deletion of exon 50 of the dystrophin gene. 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 uniparenta,es.

My last slide is a symbol of my indebtedness to the many Authors who gave so much life to so simple an idea. Edward Spence, Ronald G. It did take wonderful eyes to detect such a small, albeit most important cytogenetics detail!

I would like to devote the rest of my talk to some peculiar machanisms of UPD formation. In fact, the information on this subject has grown so large that Pub Med, the webb-site of the US National Uni;arentales of Medecine, by now lists over original titles not to mention the so-call related articles. Such a luck in this case will not occur at the next generation in spite of 7 trials ending uniparentalws as many abortions.

The only healthy offspring must have resulted from gamete complementation or, more likely, from the very early embryonic loss of parental In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy.

Last modified: February 12, 2020