[Hereditary paracentric inversion of chromosome 3].
A complete uveal dysgenesis with absence of the anterior chamber and fixed mydriatic pupil was observed in the left eye of a boy. His younger sister and his father, and also the right eye of the patient showed similar but more discrete anterior uveal alterations. All three persons present some facial peculiarities. They are also heterozygous for a paracentric inversion of the short arm of chromosome 3. Four other cases with this chromosomal aberration were found in the literature, none with eye anomalies.
Neetens
A
A
Dumon
J
J
Van Roy
B
B
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002893:Chromosomes, Human, Pair 3; D003582:Cytogenetics; D006801:Humans; D007223:Infant; D008297:Male; D009887:Ophthalmoscopy; D014603:Uveal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
Inversion paracentrique héréditaire du chromosome 3.