Chromosome breakage in control and fragile X subjects using folate-deficient culture conditions
نویسندگان
چکیده
منابع مشابه
Chromosomal breakage in normal and fragile X subjects using low folate culture conditions.
To investigate whether the fragile X syndrome is associated with a generalised chromosomal instability, we compared the frequency and distribution of chromosomal breakage in lymphocytes grown in low folate medium from normal subjects and from patients with the syndrome. Although low folate conditions increased the rate of chromosome breakage, no difference in frequency or distribution of chromo...
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For many years, studies of chromosome evolution were dominated by the random breakage theory, which implies that there are no rearrangement hot spots in the human genome. In 2003, Pevzner and Tesler argued against the random breakage model and proposed an alternative "fragile breakage" model of chromosome evolution. In 2004, Sankoff and Trinh argued against the fragile breakage model and raised...
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Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-linked gene expression with the broader clinical impact for sex chromosome aneuploidies (SCAs). In th...
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FROM time to time one of my colleagues working at a medical school commiserates with me because I spend 40 hr a year lecturing to undergraduates. I always reply that teaching has compelled me to learn a lot of material that I would not have known about had I taught only my specialized subject. These forays into the ‘‘beyond’’ were instrumental in moving my research in new directions. Three arti...
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Fragile X syndrome is the first cause of hereditary mental retardation. Numerous studies have approached the physical and behavioural phenotypes. This paper will review the main characteristics of speech and language in children with fragile X syndrome. Boys show a late language acquisition, differing comprehension and expression levels, good semantic and syntax acquisition, and speech problems...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1988
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00291743