. Author manuscript; available in PMC: 2024 May 1.

Published in final edited form as: Chromosome Res. 2023 Nov 1;31(4):32. doi: 10.1007/s10577-023-09740-w

Table 2:

Summary of aneuploidy and CIN results in brain of human subjects.

AUTHOR	YEAR	SPECIES	TECHNIQUE	PROBES	CASES (N)	AGE	TISSUE	CELL TYPE	NUMBER OF NUCLEI	DETECTION METRIC	CHROMOSOME	CHR AFFECTED %	AVERAGE CHR %	% PER TISSUE	NOTES
YANG ¹⁵	2001	Hu	FISH	Chr 11/18/21	Control 4 AD 7	69–87	Hippocampus	Bulk	400	Polyploidy	n/a	none	0 % Polyploidy	0: polyploid
YUROV ¹⁶	2001	Hu	FISH	Chr 1/7/ 8/13/16/18/21/22/X/Y	Control 2 Schizophrenia 6	28 and 76	Prefrontal cortex	Neurons	1800	Trisomy	n/a	none	0 % Trisomy	0: trisomy
REHEN ¹⁷	2005	Hu	FISH-dual	Chr 21	6	2–96	Hippocampus, frontal, occipital cortex	NeuN and NeuN-neg	500–1500	Aneuploidy and T21	21	3.2–5.2% aneuploidy, 2.4–3.8% tetrasomy	4% Aneuploidy	unk
PACK ¹⁸	2005	Hu	FISH and LOH	Chr 1/3/6/7/8/9/11	8	40–75	Hippocampus, cerebral cortex, cerebellum	Bulk	unk	Aneuploidy	unk	unk	unk	38–47
YUROV ¹⁹	2007	Hu	Q-FISH	Chr 1/9/15/16/17/18/X/Y	12	8–11 gest wks	Telencephalic region	Bulk	5000	Aneuploidy	1, 9, 15, 16, 17, 18, X, Y	1.32, 0.89, 1.17, 1.31, 0.93, 1.25, 2.33, 0.78	1.25–1.45% Aneuploidy	30–35
WESTRA ⁹	2008	Hu	FISH	Chr 6/21	6	45–76	Cerebellum	NeuN and NeuN-neg	3000	Aneuploidy	6, 21	1.2, 1.8	1% Aneuploidy	unk
THOMAS FENECH ²⁰	2008	Hu	Q-FISH	Chr 17/21	9	60–98	Hippocampus	NeuN and NeuN-neg	1000	Aneuploidy	17, 21	18, 11.8	unk	unk
IOUROV ²¹	2009	Hu	Q-FISH	Chr 1/7/11/13/14/17/18/21/ X/ Y	7	8–47	Cerebral cortex	NeuN and NeuN-neg	7000	Aneuploidy	13, 18, 21, X, Y	0.5, 0.6, 0.4, 0.4, 0.1	0.4–0.9 Aneuploidy	10–22
MOSCH ²²	2007	Hu	SBC	n/a	13	71.7 +/- 10.3	Entorhinal cortex	Neurons	80,000–120,000	DCV	n/a	n/a	n/a	10: hyperdiploid
WESTRA ²³	2010	Hu	FACS	n/a	24	35–95	Frontal cortex and Cerebellum	NeuN	10,000	DCV	n/a	n/a	n/a	4: Cortical neurons
ARENDT ²⁴	2010	Hu	SBC	n/a	14	71.7 +/- 10.3	Entorhinal cortex	Neurons	80,000–120,000	DCV	n/a	n/a	n/a	10: hyperdiploid
FISCHER ²⁵	2012	Hu	SBC	n/a	18	31–88	Frontal, Temporal, Parietal, Entorhinal, Occipital cortex	Neurons	500,000	DCV	n/a	n/a	n/a	11.5: hyperdiploid
PAMPHLETT ²⁶	2011	Hu	SNP array	n/a	28	Adult	Frontal cortex	Bulk	Bulk DNA	CNV and aneuploidy	unk	unk	unk	410 CNV observed
GOLE ²⁷	2013	Hu	sc-WGS	n/a	1	unk	Brain	NeuN	2	CNV and aneuploidy	unk	unk	unk	CNV detected
MCCONNELL ²⁸	2013	Hu	sc-WGS	n/a	3	20–26	Frontal cortex	NeuN	36 (110 total)	CNV and aneuploidy	unk	unk	unk	2.7: aneuploidy 13–41: large CNVs
KNOUSE ¹¹	2014	Hu	sc-WGS	n/a	4	48–70	Frontal lobe	NeuN	22 (89 total)	CNV and aneuploidy	18, 22	1.12, 1.12	unk	2.2
CAI ²⁹	2014	Hu	sc-WGS	n/a	3	Adult	Cortex	NeuN	32 (97 total)	CNV and aneuploidy	unk	unk	unk	0: aneuploid 68: large-scale CNV (≥1)
VAN DEN BOS ³⁰	2016	Hu	sc-WGS	n/a	6	69–95	Frontal cortex	NeuN and NeuN-neg	98 (598 total)	CNV and aneuploidy	4, 6, 13, 16, 18, 21, 22	0.2, 0.2, 0.2, 0.34, 0.2, 0.2, 0.2	0–0.34 % Aneuploidy	0.7
CHRONISTER ³¹	2019	Hu	sc-WGS	n/a	5	0.36–95	Prefrontal cortex	NeuN and NeuN-neg	474	CNV	unk	unk	unk	11.9
SUN ³²	2023	Hu			1	49	Dorsolateral prefrontal cortex	NeuN	2125		unk	unk	unk	≥ 1 226 CNV neurons deletion	Deletions ranged in size from 1Mb to entire chromosomes
KIM ³³	2014	Hu	WGS	n/a	Controls 2 Schizophrenia 3	Controls (52–59) schizophrenia (32–60)	Prefrontal cortex	Bulk	unk	CNV	unk	unk	unk	unk	106 somatic deletions