Skip to main content


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Mental retardation and/or multiple congenital malformation ~3.5% in institutionalized children Vorsanova & Yurov, unpublished observations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]