Table 3.

Mutations in the review population.

Reference	Mutation Location
Alfieri et al. [78], 2020	arr[GRCh37] 2p16.3(50432664_50536137)x1 mat, arr[GRCh37] 2p16.3(51086847_51411126) x1 mat, arr [GRCh37] 2p16.3(51037104_52339655)x1 pat.
Annunziata et al. [81], 2023	arr[GRCh37/hg19] 2p16.3(51066578_51100412)x1, arr[GRCh37/hg19] 2p16.3(51175725_51328842)x1 mat, arr[GRCh37/hg19] 2p16.3(50039172_50735499)x1 mat,
Calderoni et al. [79], 2020	arr[GRCh37/hg19] 2p16.3 (50909765_51083469) 1x pat
Cameli et al. [82], 2021	2p16.3 (NC_000002.11:g.50170766_50982172del)
Cooke et al. [27], 2022	unspecified from SynaG cohort
Cosemans et al. [76], 2020	arr[GRCh37/hg19] 2p16.3 (50453695_50662935), arr[GRCh37/hg19] 2p16.3 (50879191_50953066) mat, arr[GRCh37/hg19] 2p16.3 (50620243_50970739), arr[GRCh37/hg19] 2p16.3 (51017528_51302432) mat, arr[GRCh37/hg19] 2p16.3 (50898653_51104632) pat, arr[GRCh37/hg19] 2p16.3 (50923553_51034676) pat, arr[GRCh37/hg19] 2p16.3 (51033135_51074619), arr[GRCh37/hg19] 2p16.3 (51033989_51062766), arr[GRCh37/hg19] 2p16.3 (50992089_51026709), arr[GRCh37/hg19] 2p16.3 (51027631_51390231), arr[GRCh37/hg19] 2p16.3 (51039779_51297569) mat, arr[GRCh37/hg19] 2p16.3 (50497204_50514746) mat, arr[GRCh37/hg19] 2p16.3 (50497204_50514746) mat, arr[GRCh37/hg19] 2p16.3 (51053925_51319222) mat, arr[GRCh37/hg19] 2p16.3 (50975806_51005275), arr[GRCh37/hg19] 2p16.3 (51063155_51278187), arr[GRCh37/hg19] 2p16.3 (51160878_51356269) pat
Ishizuka et al. [77], 2020	rs201336161, rs201881725, rs1457374261, rs199970666
Leblond et al. [36], 2019	del(2p16:51125625-51255427)
Shehhi et. Al. [60], 2019	Del(2p16.3:50,138,031–50,214,776), Del(2p16.3: Del(2p16.3:50,138,031–50,214,776), Del(2p16.3: Del(2p16.3: 50,483,652–50,495,891), Del(2p16.3: Del(2p16.3: 50,483,652–50,495,891), Del(2p16.3: Del(2p16.3: 50,690,984–50,870,064), Del(2p16.3: Del(2p16.3: 50,881,995–50,947,729), Del(2p16.3: Del(2p16.3: 50,947,670–50,964,907), Del(2p16.3: Del(2p16.3: 50,957,455–51,251,557), Del(2p16.3: Del(2p16.3: 50,964,848–51,251,557), Del(2p16.3: Del(2p16.3: 50,968,453–51,260,612), Del(2p16.3: Del(2p16.3: 50,982,113–51,446,873), Del(2p16.3: Del(2p16.3: 51,057,824–51,142,908), Del(2p16.3: Del(2p16.3: 51,083,410–51,172,182), Del(2p16.3: Del(2p16.3: 51,122,091–51,314,430), Del(2p16.3: Del(2p16.3: 51,122,091–51,382,872), Del(2p16.3: Del(2p16.3: 51,122,091–51,606,257), Del(2p16.3: Del(2p16.3: 51,137,071–51,314,430), Del(2p16.3: Del(2p16.3: 51,148,508–51,251,557), Del(2p16.3: Del(2p16.3: 51,153,052–51,260,612), Del(2p16.3: Del(2p16.3: 51,237,000–51,260,612)
Uzunhan et al. [80], 2022	Del(2p16.3:chr2:51149007–51255411)
Williams et al. [83], 2019	chr2:50847195; rs78540316
Zarrei et al. [84], 2019	Del(2p16.3:50,138,031–50,996,179)pat, Del(2p16.3: 50,986,743–51,644,735), Del(2p16.3: 51,125,058–51,263,149), Del(2p16.3: 51,141,571–51,363,855)pat, Del(2p16.3: 51,163,235–51,285,498)pat, Del(2p16.3: 51,163,990–51,285,498)pat