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Results for “Uniparental Disomy”

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At least 253 records · Page 14Linked to original sources
PubMed1997

Growth effects of uniparental disomies and the conflict theory of genomic imprinting.

While numerous theories have been proposed for the evolution of genomic imprinting, few have been tested. The conflict theory proposes that imprinting is an intra-individual manifestation of classical parent-offspring conflict. This theory is unique in predicting that imprinted genes expressed from the paternally derived genome should be enhancers of pre- and post-natal growth, while those expressed from the maternally derived genome should be growth suppressors. We examine this prediction by reviewing the literature on growth of human and mouse progeny that have inherited both copies (or part thereof) of a particular chromosome from only one parent. Perhaps surprisingly, we find that much of the data do not support the hypothesis.

Animals↗
PubMed2000

Genomic imprinting, uniparental disomy and foetal growth.

Genomic imprinting is an epigenetic phenomenon identified in the past 15 years. Thus, maternally imprinted genes are only expressed from the paternal allele and vice versa. The mechanism of imprinting is still far from certain, but most probably it involves differential methylation of specific sites in or near imprinted genes. Disrupted imprinting can lead to phenotypic changes, and an increasing number of resultant clinical disorders are being identified. Many of these conditions involve disordered growth and/or development, particularly prenatal.

Animals↗
PubMed1998

Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype.

A series of spontaneous abortions collected in the South Wales region over a period of 18 months was karyotyped to identify those with a normal chromosome complement. Microsatellite polymorphisms distributed throughout all autosomes were typed by the polymerase chain reaction to determine the parental origin of each autosome pair in karyotypically normal spontaneous abortions. In 35 cases biparental inheritance of every autosome pair was demonstrated. The sex ratio of the normal spontaneous abortions of proven biparental origin was 0.77, but this was not significantly different from 1.00.

Abortion, Spontaneous↗
PubMed1994

"Compensatory" uniparental disomy of chromosome 21 in two cases.

Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21. At a later age the lymphocyte karyotype changed almost completely to 46,XX, but the fibroblast karyotype remained as before. DNA polymorphism analysis described elsewhere indicated that the 46,XX lymphocytes contained two identical chromosomes 21 (isodisomy), in case 1 inherited from the father and in case 2 from the mother. The isodisomy was the result of duplication of a chromosome in mitosis after the loss of the homologous abnormal chromosome ("compensatory isodisomy"). We report here that this cytogenetic mechanism can result in false normal cytogenetic findings. The phenotypes were attributed to the cells with monosomy 21 in case 1 and to the deletion and monosomy of chromosome 21 in case 2.

Adolescent↗
PubMed1997

No evidence for uniparental disomy as a common cause of Sotos syndrome.

A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphisms, we have examined parental inheritance of all autosome pairs, except chromosome 15, in 29 patients with Sotos syndrome. All informative cases showed biparental inheritance and no cases of UPD were found. We conclude that Sotos syndrome is either not caused by an imprinted gene or that UPD is rare or of a segmental form in its aetiology.

Chromosome Aberrations↗