DISOMIA UNIPARENTAL PDF
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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This article incorporates public domain text from The U. In addition, the boy presented with many phenotypic features associated with upd 14 mat along with hypoesthesia to pain, previously unreported in this disorder, and bilateral cryptorchidism, also rarely described. In this composite picture the dwarf sitting on the shoulders of the giant is the personn who sees the farthest.
Identification of human chromosomes by DNA-binding fluorescent agents. Retrieved 11 June Archived from the original on My last slide is a symbol of my indebtedness to the many Authors who gave so much life to so simple an idea.
On this slide are uniparrntal examples of both types of segmental UPD, terminal or interstitial, as found for various chromosomes, 4, 6, 7, 11, 14, The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice.
Lactic acidosis trifunctionnal protein deficiency. This information not only implies the remarkable frequency of gonocyte aneuploidy but also reveals the pre And thus, after uniparenral 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.
UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development. I also want to mention the wealth of information and observations that we owe to Pr A Schinzel and his group and to Dr Dietrich Kotzot in this area. Also it is of note that if this duplicated allele was that of a recessive trait, the individual would be affected. Monosomy Turner syndrome 45,X.
And, it is as much as I shall now devote to this aspect of non-traditional inheritance in UPD. 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! Therefore, in this instance, although normal looking, the second maternal chromosome 15 was lacking the genetic expression of a proper paternal one.
We had come to learn that one half or so of these aborted fetuses showed major chromosome anomalies, disomiq of them as a trisomy, one fifth as an X-monosomy and one third as a polyploidy, mostly triploidies. 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 Expert Reviews in Molecular Medicine.
In fact, the information on this subject has grown so large that Pub Med, the webb-site of the US National Library of Medecine, by now lists iniparental original titles not to mention the so-call related articles. 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.
Orphanet: Disomia uniparental del cromosoma 15 de origen paterno UPDP15
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. You see here, at first glance, a non-homologous balanced translocation which, through an adjacent meiotic separation, produces a disomic gamete.
As a result, recessive traits can be expressed. Most remarkable, is not it?
I first aim at showing the role of some so-called non homologous or homologous Robertsonian translocations or centric fusions of acrocentric chromosomes. At this junction, in guise of more systematic approach, we can review, as shown here, the 47 possibilities 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.
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 hniparental genome, assuming that the available information allowed an exclusion of uniparenta, mosaic compounded by an aneuploid component.