Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.
AUTOR(ES)
Quarrell, O W
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016828Documentos Relacionados
- Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome.
- Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.
- Uncommon Oral Cleft in Wolf-Hirschhorn Syndrome
- Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study.
- Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.