No evidence for uniparental disomy of the sex chromosomes in idiopathic male infertility

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...

Reciprocal uniparental disomy in yeast.

In the diploid cells of most organisms, including humans, each chromosome is usually distinguishable from its partner homolog by multiple single-nucleotide polymorphisms. One common type of genetic alteration observed in tumor cells is uniparental disomy (UPD), in which a pair of homologous chromosomes are derived from a single parent, resulting in loss of heterozygosity for all single-nucleoti...

Idiopathic Male Infertility

Idiopathic Male Infertility

Idiopathic Male Infertility