Table 2

The load of chromosomal mosaicism to human prenatal mortality and postnatal morbidity

Condition/disease

Description

References

Spontaneous abortions

~25% of all spontaneous abortions (~50% of spontaneous abortions with chromosome abnormalities) exhibit chromosomal mosaicism

[17]

Chromosomal syndromes

3–18% (depending on chromosome)

[4,5,7]

Mental retardation and/or multiple congenital malformation

~3.5% in institutionalized children

Vorsanova & Yurov, unpublished observations

Autism

16% in children with autism (~10% X chromosome aneuploidy in male children)

[11]

Schizophrenia

Mosaic aneuploidy of chromosomes 1, 18 and X in cells of the schizophrenia brain; mosaic X chromosome aneuploidy in blood lymphocytes

[7,8,12]

Autoimmune diseases

Monosomy of chromosome X in systemic sclerosis (6.2% of cells) and autoimmune thyroid disease (4.3% of cells)

[10]

Alzheimer disease

over 10% in brain cells; increase of aneuploidy of chromosome 21 in mitotic cells (skin fibroblasts or blood lymphocytes)

[25,26]

Meiotic aneuploidy

Chromosomal mosaicism confined to fetal ovarian tissues has potential to result into meiotic aneuploidy in conceptions

[15]

Iourov et al. Molecular Cytogenetics 2008 1:26   doi:10.1186/1755-8166-1-26