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Healthy female carriers of a gene for the Alport syndrome: Importance for genetic counseling
Author(s) -
Tishler Peter V.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01002.x
Subject(s) - alport syndrome , genetic counseling , disease , medicine , genetics , glomerulonephritis , pediatrics , biology , kidney
Of 305 female obligatory carriers of a gene for the Alport syndrome identified in the literature, 37 (12.1 %) had no clinical or laboratory signs or symptoms (renal, audiometric, ophthalmological) of disease. The prevalence of unaffected female obligatory carriers appeared not to vary according to age or to the severity of the illness in male members of any pedigree. Normal clinical or laboratory data for any female liable for the Alport syndrome must thus be interpreted with caution.