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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Blindness / congenital*
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Blindness / diagnosis
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Blindness / genetics
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Chromosome Aberrations / diagnosis*
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Chromosome Deletion
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Chromosome Disorders
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Cloning, Molecular
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DNA Restriction Enzymes
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Female
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Genetic Carrier Screening
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Humans
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Pedigree
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Pregnancy
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Prenatal Diagnosis