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Table 2 The load of chromosomal mosaicism to human prenatal mortality and postnatal morbidity

From: Chromosomal mosaicism goes global

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Vorsanova & Yurov, unpublished observations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]