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. Author manuscript; available in PMC: 2024 May 1.
Published in final edited form as: Nat Genet. 2023 Oct 23;55(11):1920–1928. doi: 10.1038/s41588-023-01547-z

Fig. 2. Chromosome 1q gain originates in maternal meiosis.

Fig. 2.

(A) A high number of brain mosaic SNVs were observed on chromosome 1q in five out of six patients. (B) Variant allele fractions for SNVs found on chromosome 1q in Patient 3 brain, blood, buccal, and parental blood samples, demonstrating that these SNVs represent an extra chromosome 1q allele of maternal origin. (C) Illustrative depiction of representative chromosome 1q SNVs from Patient 3 showing a maternal origin of the brain mosaicism. (D) Position of chromosome 1q mosaic SNVs visualized on ideograms for each patient. (E) Hypothetical model for brain mosaicism arising from a maternal meiotic I non-disjunction event with centric mis-division in meiosis II, followed by rescue in non-neural cell lineages.