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Further evidence of genetic heterogeneity in hereditary hydronephrosis
Author(s) -
McHale Duncan,
Porteous Mary E. M.,
Wentzel John,
Bum John
Publication year - 1996
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.1399-0004.1996.tb02719.x
Subject(s) - hydronephrosis , genetics , genetic heterogeneity , genetic linkage , biology , linkage (software) , inheritance (genetic algorithm) , etiology , genetic counseling , autosomal recessive inheritance , chromosome , medicine , pathology , endocrinology , gene , phenotype , urinary system
Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We report a family not showing linkage to this region, giving further evidence of genetic heterogeneity in this condition.