Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

Table 1 Description of cases with a 22q11.2 deletion

Case no.	Category^a	NCBI36/hg18 Genomic Coordinates (GRCh38/hg38 Genomic Coordinates)	Deletion size (Mb)	Parental origin	Additional findings
1	Abnormal	16,930,000–20,430,000 (18,067,234–21,745,711)	3.5	Maternal	XXY
2	Abnormal	18,630,000–20,130,00) (20,262,477–21,445,711)	1.5	Maternal	Trisomy 15
3	Abnormal	19,100,000–19,750,000 (20,415,710–21,065,711)	0.65	Maternal	Trisomy 16
4	Normal	17,400,000–19,780,000 (19,032,487–21,095,711)	2.4	Maternal	Maternal UPD17
5	Normal	16,980,000–20,500,000 (18,117,233–21,815,711)	3.5	Maternal	None
6	Normal	16,940,000–20,250,000 (18,077,234–21,565,711)	3.3	Maternal	None
7	Normal	17,140,000–19,940,000 (18,772,487–21,255,711)	2.8	Maternal	None
8	Normal	17,280,000–19,790,000 (18,912,487–21,105,711)	2.5	Maternal	None
9	Normal	17,280,000–19,700,000 (18,912,487–21,015,711)	2.4	Maternal	None
10^b	Normal	19,070,000–19,790,000 (20,385,710–21,105,711)	0.72	Maternal	None
11^b	Normal	19,070,000–19,790,000 (20,385,710–21,105,711)	0.72	Maternal	None
12	Normal	19,070,000–19,780,000 (20,385,710–21,095,711)	0.71	Maternal	None
13	Normal	16,940,000–20,130,000 (18,077,234–21,445,711)	3.2	Paternal	None
14	Normal	17,010,000–20,250,000 (18,147,233–21,565,711)	3.2	Paternal	None
15	Normal	16,890,000–19,290,000 (18,027,234–20,605,713)	2.4	Paternal	None

^aBased on the presence or absence of chromosome abnormalities that were detectable at the resolution of traditional karyotyping (i.e., ≥10 Mb)
^bNon-identical twin gestation

ISSN: 1755-8166