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  • Title: Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
    Author: Quarrell OW, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ.
    Journal: J Med Genet; 1991 Apr; 28(4):256-9. PubMed ID: 1856831.
    Abstract:
    DNA samples were obtained from children with Wolf-Hirschhorn syndrome and their parents to assist with gene mapping studies of 4p16.3 (the region known to contain the Huntington's disease gene). A panel of seven families was studied, using polymorphic DNA markers, to determine the parental origin of the chromosome abnormality resulting in Wolf-Hirschhorn syndrome. All seven cases were the result of de novo deletions or rearrangements of 4p and in each case the abnormality arose on the paternal chromosome. Analysis of the 3' hypervariable regions of the alpha globin and mucin loci indicated that non-paternity was unlikely to be an explanation for these results. A paternal age effect was not observed. The possibilities of an environmental influence or genetic imprinting require further consideration. This report extends information regarding the preponderance of the paternal origin of de novo structural deletion syndromes.
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