This is an ambitious title to deal with. Of course, UPD refers to the accidental presence of a chromosome pair or a chomosome segment derived from only one. Ann Neurol. Oct;32(4) Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Nicholls RD(1), Pai GS, Gottlieb W. Maternal uniparental disomy of chromosome 7 (matUPD(7)), the inheritance of both copies of chromosome 7 exclusively from the mother, occurs in.


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However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of uniparental disomy uniparental chromosome isodisomyleading to the manifestation of rare recessive disorders.

UPD should be suspected in an individual manifesting a uniparental disomy disorder where only one parent is a carrier. Uniparental inheritance of imprinted genes can also result in phenotypical anomalies.

Uniparental disomy

Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, mental retardation, or other medical problems. Besides, in the case of Eggerding uniparental disomy al, the short arm isochromosome 7 was paternal ad the isochromosome for the long arm was maternal in origin.

Most remarkable, is not it? Slide 31 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 homologous non-sister chromatids.

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When interstitial, the segmental UPD results from two symmetrical breaks, which are shown here as the result of an interchromatid kiss! Mitotic segregation of the uniparental disomy chromosomes, thereafter leads to mosaicism with one native and one reshuffled balanced cell line.

Slide 32 In other instances the segmental UPD is terminal and results from a single symmetrical break in each of two homologous non-sister chromatids, as seen here. Mosaicism involving two somatic cell types also results from this.

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Slide 33 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, Some were discovered because of reduction to homozygosity causing recesive traits, while others involved imprinted domains and disrupted them.

Here are briefly reviewed some modes of UPD formation for more commonly affected member chromosomes. This summary slide attempts uniparental disomy compile the information developed in this presentation.


Slide 36 This slide shows a source to find more information from a book written witn my friend and Colleague Stylianos Emmanuel Antonarakis which was published in by Liss-Wiley in New York. We report here clinical, cytogenetic, and molecular evidence on the 1 patient with paternal UPD for chromosome 15 who was found in our study population.

Uniparental disomy represents, to our knowledge, the first patient with paternal UPD to be studied with DNA probes from the chromosome 15qq13 critical region.

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