Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.

Chromosomal rearrangement segregating with adrenoleukodystrophy: associated changes in color vision.

A patient from a large kindred with adrenoleukodystrophy showed profound disturbance of color ordering, color matching, increment thresholds, and luminosity. Except for color matching, his performance was similar to blue-cone "monochromacy," an X chromosome-linked recessive retinal dystrophy in which color vision is dichromatic, mediated by the visual pigments of rods and short-wave-sensitive c...

Chromosomal changes associated with changes in development.

In the past there has been a tendency to dwell on aspects of chromosomes which stress constancy of structure, number and content; even to the extent of dismissing exceptions as 'aberrations' or 'oddities'. It is now becoming clear that genomes can be quite plastic, and that structural changes to chromosomes are an important and often necessary part of normal differentiation and development. Eli...

Balanced Chromosomal Rearrangement in Recurrent Spontaneous Abortions: A Case Report

One of the major causes of spontaneous abortion before the fourth month of pregnancy is chromosomal abnormalities. We report an unusual case of a familial balanced chromosomal translocation in a consanguineous couple who experienced 4 spontaneous abortions. Chromosomal studies were performed on the basis of G-banding technique at high resolution and revealed 46, XX, t (16 6) (p12 q26) and 46, X...

Multifocal and full-field electroretinogram changes associated with color-vision loss in mercury vapor exposure.

We evaluated the color vision of mercury-contaminated patients and investigated possible retinal origins of losses using electroretinography. Participants were retired workers from a fluorescent lamp industry diagnosed with mercury contamination (n = 43) and age-matched controls (n = 21). Color discrimination was assessed with the Cambridge Colour Test (CCT). Retinal function was evaluated by u...

Epigenetic Changes Associated with Chromosomal Translocation in Leukemia