title: Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
abstract: 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.
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D004262:DNA Restriction Enzymes