Parental origin of Robertsonian translocation (15q22q) and Prader Willi syndrome associated with autism

1994 ◽  
Vol 4 (1) ◽  
pp. 63-66 ◽  
Author(s):  
I. Arrieta ◽  
M. N. Lobato ◽  
B. Martinez ◽  
B. Criado
Genetics ◽  
2002 ◽  
Vol 161 (3) ◽  
pp. 1219-1224
Author(s):  
Lara A Underkoffler ◽  
Laura E Mitchell ◽  
A Russell Localio ◽  
Shannon M Marchegiani ◽  
Justin Morabito ◽  
...  

Abstract A Robertsonian translocation results in a metacentric chromosome produced by the fusion of two acrocentric chromosomes. Rb heterozygous mice frequently generate aneuploid gametes and embryos, providing a good model for studying meiotic nondisjunction. We intercrossed mice heterozygous for a (7.18) Robertsonian translocation and performed molecular genotyping of 1812 embryos from 364 litters with known parental origin, strain, and age. Nondisjunction events were scored and factors influencing the frequency of nondisjunction involving chromosomes 7 and 18 were examined. We concluded the following: The frequency of nondisjunction among 1784 embryos (3568 meioses) was 15.9%.Nondisjunction events were distributed nonrandomly among progeny. This was inferred from the distribution of the frequency of trisomics and uniparental disomics (UPDs) among all litters.There was no evidence to show an effect of maternal or paternal age on the frequency of nondisjunction.Strain background did not play an appreciable role in nondisjunction frequency.The frequency of nondisjunction for chromosome 18 was significantly higher than that for chromosome 7 in males.The frequency of nondisjunction for chromosome 7 was significantly higher in females than in males. These results show that molecular genotyping provides a valuable tool for understanding factors influencing meiotic nondisjunction in mammals.


2002 ◽  
Vol 71 (6) ◽  
pp. 1456-1462 ◽  
Author(s):  
Ruma Bandyopadhyay ◽  
Anita Heller ◽  
Cami Knox-DuBois ◽  
Christopher McCaskill ◽  
Sue Ann Berend ◽  
...  

1994 ◽  
Vol 31 (3) ◽  
pp. 255-256 ◽  
Author(s):  
M Krajinovic ◽  
K Ivanovic ◽  
L Mestroni ◽  
V Diklic ◽  
J Nikolis

2002 ◽  
Vol 113 (3) ◽  
pp. 307-308 ◽  
Author(s):  
Angélica Alliende ◽  
Bianca Curotto ◽  
Lorena Santa Maria ◽  
Fanny Cortés ◽  
Mariana Aracena

Genetics ◽  
1995 ◽  
Vol 141 (2) ◽  
pp. 667-674 ◽  
Author(s):  
R J Oakey ◽  
P G Matteson ◽  
S Litwin ◽  
S M Tilghman ◽  
R L Nussbaum

Abstract Mice bearing Robertsonian translocation chromosomes frequently produce aneuploid gametes. They are therefore excellent tools for studying nondisjunction in mammals. Genotypic analysis of embryos from a mouse cross between two different strains of mice carrying a (7,18) Robertsonian chromosome enabled us to measure the rate of nondisjunction for chromosomes 7 and 18. Embryos (429) were harvested from 76 litters of mice and the parental origin of each chromosome 7 and 18 determined. Genotyping these embryos has allowed us to conclude the following: (1) there were 96 embryos in which at least one nondisjunction event had taken place; (2) the rate of maternal nondisjunction was greater than paternal nondisjunction for teh chromosomes sampled in these mice; (3) a bias against chromosome 7 and 18 nullisomic gametes was observed, reflected in a smaller than expected number of uniparental disomic embryos; (4) nondisjunction events did not seem to occur at random throughout the 76 mouse litters, but were clustered into fewer than would be expected cy chance; and (5) a deficiency of paternal chromosome 18 uniparental disomic embryos was observed along with a higher than normal rate of developmental retardation at 8.5 days post coitum, raising the possibility that this chromosome has at least one imprinted gene.


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