Literature DB >> 8081941

Increased parental ages and uniparental disomy 15: a paternal age effect?

W P Robinson1, I Lorda-Sanchez, S Malcolm, S Langlois, S Schuffenhauer, H Knoblauch, B Horsthemke, A A Schinzel.   

Abstract

Parental ages associated with both maternal and paternal uniparental disomy (UPD) of chromosome 15 are highly elevated in comparison to Zurich population-based controls, with mean maternal and paternal ages of 35.6 and 38.1, respectively for UPD patients (diagnosed in Zurich) and 28.0 and 31.0, in controls. The parental ages are also significantly higher than observed for trisomies of other chromosomes diagnosed in Zurich. The higher age of UPD cases may be due to the fact that two errors, both a gain and a loss of a chromosome 15, are necessary. We suggest that gamete complementation, zygote formation from two gametes one of which is nullisomic and the other disomic for the same chromosome, may be a major mechanism of UPD formation, as well as secondary loss of a chromosome in a trisomic conception, and that there is an association between increased paternal age and nondisjunction.

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Year:  1993        PMID: 8081941     DOI: 10.1159/000472425

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  7 in total

1.  Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

Authors:  K Devriendt; G Matthijs; S Claes; E Legius; W Proesmans; J J Cassiman; J P Fryns
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

Authors:  L Pulkkinen; F Bullrich; P Czarnecki; L Weiss; J Uitto
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Authors:  A Smith; R Marks; E Haan; J Dixon; R J Trent
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

4.  Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

Authors:  D Kotzot; F Bernasconi; L Brecevic; W P Robinson; P Kiss; G Kosztolanyi; I W Lurie; A Superti-Furga; A Schinzel
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

5.  Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

Authors:  G Gillessen-Kaesbach; W Robinson; D Lohmann; S Kaya-Westerloh; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

6.  The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH.

Authors:  R H Martin; E Spriggs; E Ko; A W Rademaker
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

Review 7.  Angelman syndrome: a review of the clinical and genetic aspects.

Authors:  J Clayton-Smith; L Laan
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

  7 in total

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