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Improvement of prenatal diagnosis of wilson disease using microsatellite markers
Author(s) -
Loudianos G.,
Figus A. L.,
Loi A.,
Angius A.,
Dessì V.,
Deiana M.,
De Virgiliis S.,
Monni G.,
Cao A.,
Pirastu M.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970141018
Subject(s) - prenatal diagnosis , microsatellite , medicine , genetics , pregnancy , biology , fetus , allele , gene
This paper describes a case of prenatal diagnosis for Wilson disease (WD) carried out in an at‐risk couple of Sardinian descent, following non‐directive genetic counselling. Diagnosis was obtained by using eight microsatellites located within or flanking the WD locus, six of which were 100 per cent and two 50 per cent informative. The use of several markers may limit the occurrence of misdiagnosis resulting from recombination or instability of repeats.