Germline and somatic mosaicism in a female carrier of Hunter disease.
AUTOR(ES)
Froissart, R
RESUMO
Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and 22% in fibroblasts). The proband's sister carries the at risk allele (determined by haplotype analysis), but not the mutation. In sporadic cases of X linked diseases, germline mosaicism of the proband's mother is difficult to exclude and should be considered in genetic counselling.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050868Documentos Relacionados
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