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Constitutional chromosomal mosaicism is the result of postfertilization mitotic error, the
mechanism of which is not fully understood. The distribution of mosaicism in the conceptus …

We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …

Background Loss of epigenetic control is a hallmark of aging. Among the most prominent
roles of epigenetic mechanisms is the inactivation of one of two copies of the X chromosome …

Background Mosaicism for copy number and copy neutral chromosomal rearrangements
has been recently identified as a relatively common source of genetic variation in the normal …

A large database of copy number profiles from cancer genomes can facilitate the
identification of recurrent chromosomal alterations that often contain key cancer-related …

Mosaicism—the existence of genetically distinct populations of cells in a particular organism—
is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations …

Background Mosaic mutations acquired during early embryogenesis can lead to severe
early-onset genetic disorders and cancer predisposition, but are often undetectable in blood …

Mosaic segmental and whole chromosome copy number alterations are postzygotic
variations known to be associated with several disorders. We have previously presented an …

Mosaicism refers to the occurrence of two or more genomes in an individual derived from a
single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be …