منابع مشابه
Current status of human chromosome 14.
Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders were assigned to chromosome 14 by studying either constitutional or acquired chromosome aberrations of affected subjects. Studies of benign and malignant t...
متن کاملRing chromosome 14. A distinct clinical entity.
In this report two non consanguineous children are presented with strikingly similar phenotypes confirming the existence of a characteristic phenotype due to a ring chromosome 14 formation.
متن کاملChromosome 14 markers in rheumatoid arthritis.
Phenotype frequencies for variants of the chromosome 14 markers, alpha 1 antitrypsin (protease inhibitor--Pi), and immunoglobulin heavy chain gene allotypes (Gm and Am) were examined in affected and unaffected members of multicase rheumatoid arthritis (RA) families and compared with published population data. Significantly higher frequencies of phenotypes containing Pi*Z and Pi*S were observed ...
متن کاملEpigenetic inheritance associated with human chromosome 14.
Within the last decade, there has been sufficient evidence to support the association of epigenetic inheritance or genomic imprinting on human chromosome 14. This has been achieved with studies of imprinting on both human chromosome 14 and mouse chromosome 12, which has the largest homology to human chromosome 14. Initial studies with mouse chromosome 12 aberrations suggested that specific phen...
متن کاملInheritance of a ring 14 chromosome.
A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.
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ژورنال
عنوان ژورنال: TAXON
سال: 2012
ISSN: 0040-0262
DOI: 10.1002/tax.616027