Paternal origin of the de novo constitutional t(11;22)(q23;q11)
نویسندگان
چکیده
منابع مشابه
Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly...
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Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families...
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BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic...
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Studies tracing parental origins of human mutations by means of cytogenetic polymorphisms and RFLPs show that most trisomics arise out of maternal errors of segregation at the first meiotic division in oocytes. Temporal disturbance of meiotic progression seems likely to underly aneuploidy production in the female mouse, and this could equally be true in women, most especially as they approach t...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2010
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2010.20