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Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family
M J Pettenati1, P N Rao, R G Weaver
1Department of Pediatrics, Bowman Gray School of Medicine, Wake Forest University Medical Center, Winston-Salem, North Carolina 27157.
American Journal of Medical Genetics
|March 1, 1993
Summary
Norrie disease is linked to a pericentric X chromosome inversion in a four-generation family. This inversion may disrupt the Norrie disease gene located at Xp11, providing physical gene location evidence.
Area of Science:
- Genetics
- Ophthalmology
- Medical Science
Background:
- Norrie disease is a rare X-linked genetic disorder causing blindness.
- Chromosome aberrations have been previously associated with Norrie disease, but the specific gene disruption remained unclear.