TY - JOUR T1 - Germline and somatic mosaicism in a female carrier of Hunter disease. JF - Journal of Medical Genetics JO - J Med Genet SP - 137 LP - 140 DO - 10.1136/jmg.34.2.137 VL - 34 IS - 2 AU - R Froissart AU - I Maire AU - V Bonnet AU - T Levade AU - D Bozon Y1 - 1997/02/01 UR - http://jmg.bmj.com/content/34/2/137.abstract N2 - 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. ER -