Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis.
نویسندگان
چکیده
منابع مشابه
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...
متن کاملBalanced 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...
متن کاملA complex chromosomal rearrangement with formation of a ring 4.
Ring chromosome formation, though uncommon, is now a well-recognized cause of congenital anomalies in man. On the basis of early work in other organisms, it is assumed that ring formation involves a break in each arm of the chromosome, with reunion to form a centric ring and an acentric fragment. The latter is subsequently lost, and the phenotype results essentially from deletion of this chromo...
متن کاملbalanced 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...
متن کاملMolecular characterization of an aberrant allele for the Gy3 glycinin gene: a chromosomal rearrangement.
The soybean variety Forrest contains an aberrant allele for the Gy3 glycinin gene. The aberrant allele is designated gy3 because mRNA for the G3 glycinin subunit is reduced to below detectable amounts in the seed. Molecular and genetic characterization of gy3 show it to be associated with a chromosomal rearrangement that causes the 5' halves and 3' halves of the gene to become separated from on...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1993
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.90.20.9489