Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report

Table 1 Position of point mutations or range of duplications related to zone of polarizing activity regulatory sequence causing triphalangeal thumb-polysyndactyly syndrome

Ref.	Position/range
Lettice et al[3], 2003	Point mutation: 105C>G
Wang et al[6], 2007	Point mutation: 4420C>T
VanderMeer et al[5], 2012	Point mutation: 287C>A
Potuijt et al[4], 2018	Point mutation: Pre-ZRS (chr7: 156585476G>C)
Klopocki et al[1], 2008	Duplication: 589 kb
Sun et al[7], 2008	Duplication: 131-398 kb
Wieczorek et al[8], 2010	Duplication: 276 kb
Lohan et al[9], 2014	Duplication: 255 kb
Xing et al[10], 2014	Duplication: 442 kb
Liu et al[11], 2017	Duplication: 288 kb
Xu et al[12], 2020	Duplication: 180 kb

ZRS: Zone of polarizing activity regulatory sequence.