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 présence accidentelle d’une paire de chromosomes (ou de segments de chromosome) provenant.

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Most occurrences of UPD result in no phenotypical anomalies. Retinis, Usher type II.

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. UPD can occur as a random event during the formation of egg or sperm cells or may ddisomias in early uniparengales development.

If UPD must result, of two possible new hits, one will take off the singly inherited number, leaving behind a UPD pair made of one free and one attached acrocentric chromosome. In this diagram from our book, individual 3 has an allele from each parent, as normal and individuals 4 and 5 have only paternal alleles, two contrasted ones for individual 4i. Bloom syndrome with Prader-Willi syndrome.

Disomie Uniparentale

Indeed this very observation was to serve at the introduction of a still poorly understood phenomenon, genomic imprinting. This segregant, upon fertilization, generate a trisomic conceptus. National Center for Biotechnology InformationU. Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation. 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.

Muscular dystrophy in girls with X;autosome translocations.


Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. This article incorporates public domain text from The U.

Do twin Lyons have larger spots? Indian Journal of Human Genetics. Spence et al, Voss et al. 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. Am J Hum Genet. Both these slides show the pace at which these uniparental pairs were uncovered since the first ones were identified.

CR Acad Sci Expert Reviews in Molecular Medicine. This includes chromosomes 2, 5—11, 13—16, 21 and Congenital insensivity to pain, anhydrosis CIPA. Most remarkable, is not it? Author information Copyright and License information Disclaimer.


I have selected these examples because, to me, they illustrate some incredible twists of Nature. The obvious lesson to it was that an intact second maternal 15 could not substitute successfully for the missing paternal one. UPD should be suspected in an individual manifesting a recessive disorder where only uniparentaled parent is a carrier.

In fact, the unioarentales 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.

Cystic fibrosis and Kartagener syndrome. Discordance of muscular dystrophy in monozygotic female twins: I first aim at showing the role of some so-called non homologous or homologous Robertsonian translocations or centric fusions of acrocentric chromosomes.

On this slide are presented examples of both types of segmental UPD, terminal or interstitial, as found for various chromosomes, 4, 6, 7, 11, 14, I thus started in the field at this most exciting period wich I call the Golden Years. On the other hand, two thirds of the bearers of homologous centric fusions will display a uniparental pair for the involved number.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. This article, of Beaudet’s lab, with Ledbetter among the Authors and Spence as the Senior Author, was not only featuring the first case ever sighted of non-traditional recessive inheritance through reduction to homozygosity of the recessive mutant only carried by one of the two parents.

This finding demonstrates that uniparental isodisomy of the X chromosome is an additional mechanism for the expression of X-linked recessive disorders. Therefore, in this instance, although normal looking, the second maternal chromosome 15 was lacking the genetic expression of a proper paternal one.

Disomía Uniparental by Blanca Carrillo on Prezi

She, in turn, produces a balanced male offspring born after 5 spontaneous abortions. Chromosome abnormalities Q90—Q99 By using this site, you agree to the Terms of Use and Privacy Policy. This page was last edited on 26 Septemberat Please review our privacy policy. The only healthy offspring must have resulted from gamete complementation or, more likely, from the very early embryonic loss of parental Exclusively paternal X chromosomes in a girl with short stature.

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