title: The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans.
abstract: BACKGROUND
  Chromosomal mosaicism, the presence of two or more distinct cell lines, is prevalent throughout human pre- and post-implantation development and can lead to genetic abnormalities, miscarriages, stillbirths or live births. Due to the prevalence and significance of mosaicism in the human species, it is important to understand the origins, mechanisms and incidence of mosaicism throughout development.
  
  
  METHODS
  Literature searches were conducted utilizing Pubmed, with emphasis on human pre- and post-implantation mosaicism.
  
  
  RESULTS
  Mosaicism persists in two separate forms: general and confined. General mosaicism is routine during human embryonic growth as detected by preimplantation genetic screening at either the cleavage or blastocyst stage, leading to mosaicism within both the placenta and fetus proper. Confined mosaicism has been reported in the brain, gonads and placenta, amongst other places. Mosaicism is derived from a variety of mechanisms including chromosome non-disjunction, anaphase lagging or endoreplication. Anaphase lagging has been implicated as the main process by which mosaicism arises in the preimplantation embryo. Furthermore, mosaicism can be caused by any one of numerous factors from paternal, maternal or exogenous factors such as culture media or possibly controlled ovarian hyperstimulation during in vitro fertilization (IVF). Mosaicism has been reported in as high as 70 and 90% of cleavage- and blastocyst-stage embryos derived from IVF, respectively.
  
  
  CONCLUSIONS
  The clinical consequences of mosaicism depend on which chromosome is involved, and when and where an error occurs. Mitotic rescue of a meiotic error or a very early mitotic error will typically lead to general mosaicism while a mitotic error at a specific cell lineage point typically leads to confined mosaicism. The clinical consequences of mosaicism are dependent on numerous aspects, with the consequences being unique for each event.
authors.affiliation: Reproductive Endocrinology Associates of Charlotte, 1524 E Morehead St., Charlotte, 28207 NC, USA Department of Biosciences, University of Kent, Canterbury CT2 7NJ, UK tyltaylor@gmail.com.
authors.forename: Tyl H
authors.initials: TH
authors.lastname: Taylor
authors.affiliation: Department of Obstetrics and Gynecology, Eastern Virginia Medical School, Jones Institute for Reproductive Medicine, 601 Colley Avenue #316, Norfolk, 23507 VA, USA.
authors.forename: Susan A
authors.initials: SA
authors.lastname: Gitlin
authors.affiliation: Reproductive Endocrinology Associates of Charlotte, 1524 E Morehead St., Charlotte, 28207 NC, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Patrick
authors.affiliation: Reproductive Endocrinology Associates of Charlotte, 1524 E Morehead St., Charlotte, 28207 NC, USA.
authors.forename: Jack L
authors.initials: JL
authors.lastname: Crain
authors.affiliation: Reproductive Endocrinology Associates of Charlotte, 1524 E Morehead St., Charlotte, 28207 NC, USA.
authors.forename: J Michael
authors.initials: JM
authors.lastname: Wilson
authors.affiliation: Department of Biosciences, University of Kent, Canterbury CT2 7NJ, UK.
authors.forename: Darren K
authors.initials: DK
authors.lastname: Griffin
mesh_terms: D001755:Blastocyst / Q000502:physiology*; D019070:Cell Lineage / Q000502:physiology; D025063:Chromosome Disorders / Q000209:etiology*; D002970:Cleavage Stage, Ovum / Q000502:physiology; D010064:Embryo Implantation / Q000502:physiology; D047108:Embryonic Development / Q000235:genetics*; D005220:Fathers; D005307:Fertilization in Vitro / Q000009:adverse effects; D006801:Humans; D009030:Mosaicism; D009035:Mothers; D019836:Preimplantation Diagnosis / Q000379:methods
keywords: IVF; PGS; aneuploidy; chromosome; mosaicism