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Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis
Author(s) -
Chapelle Albert de La,
Sankila EevaMarja,
Lindlöf Mikael,
Aula Pertti,
Norio Reuo
Publication year - 1985
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.1399-0004.1985.tb00405.x
Subject(s) - prenatal diagnosis , locus (genetics) , x chromosome , gene , genetics , chromosome , fetus , disease , biology , medicine , pathology , pregnancy
Carrier determination and prenatal diagnosis in Norrie disease (ND) has so far not been reported. We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a carrier woman is unaffected.