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Case Reports
. 1997 Feb;34(2):137-40.
doi: 10.1136/jmg.34.2.137.

Germline and somatic mosaicism in a female carrier of Hunter disease

R Froissart  1 , I Maire, V Bonnet, T Levade, D Bozon
Affiliations
Case Reports

Germline and somatic mosaicism in a female carrier of Hunter disease

R Froissart et al. J Med Genet. 1997 Feb.

Abstract

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.

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