Abstract
Somatic mosaicism for pathogenic genetic variants can explain the clinical findings of individuals with highly suspected genetic disorders who have uninformative results on genetic analysis of peripheral blood mononuclear cells (PBMCs). Indeed, mosaic small supernumerary chromosomes may be undetected in tissues with high cellular turnover, such as PBMCs, due to their intrinsic instability during mitosis. Features suggestive of somatic mosaicism include segmental pigmentary skin or hair changes, body asymmetry, and mild presentations of well-characterized syndromes such as Trisomy 21.
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