Abstract
Low-level somatic chromosomal mosaicism, which usually arises from post-zygotic errors, is a known cause of several well defined genetic syndromes and has been implicated in various multifactorial diseases. It is, however, not easy to diagnose, as various physical and technical factors complicate its identification.
Highlights
Developmental origins of mosaicism Chromosomal mosaicism is defined as the presence of two or more karyotypically different cell lines in the same individual
Recent array comparative genomic hybridization analysis [1] of normally developing, good quality preimplantation embryos confirmed the presence of a high percentage of chromosomal abnormalities at cleavage stage
The role of somatic mosaicism in disease Somatic mosaicism contributes to variations in phenotypic expression and disease and has important clinical consequences
Summary
Developmental origins of mosaicism Chromosomal mosaicism is defined as the presence of two or more karyotypically different cell lines in the same individual. Recent array comparative genomic hybridization (array CGH) analysis [1] of normally developing, good quality preimplantation embryos confirmed the presence of a high percentage of chromosomal abnormalities at cleavage stage. This analysis [1] showed that all abnormal embryos were mosaic for the aberrations found and that could whole chromosome aneuploidies be detected, and a significant number of segmental aberrations.
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