منابع مشابه
Inheritance 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.
متن کاملa case of autism with ring chromosome 14.
autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...
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 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 کاملRing 13 chromosome with normal haptoglobin inheritance.
The combination of cytogenetic, biochemical, and family studies for investigation of patients who have partially deleted chromosomes provides a potential opportunity to learn what genes were present on the fragment deleted from the chromosome. In addition, the genes on its remaining homologue can be studied in their hemizygous state. The ring chromosome, an example of a partially deleted chromo...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.2.158