Research Article

Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities

Table 3

Familial variants and possible variants detected by FISH in patients with ID.

ReferenceNumber of casesVariant

Fan et al., 2001 [6]8del(2)(qter) [n = 8]

Anderlid et al., 2002 [8]2del(2)(qter) [n = 2]

Baker et al., 2002 [9]5del(12)(pter) [n = 1], del(2)(qter) [n = 4]

Dawson et al., 2002 [11]1del(Y)(qter) [n = 1]

Clarkson et al., 2002 [12]1del(2)(qter) [n = 1]

van Karnebeek et al., 2002 [13]11del(2)(qter) [n = 7], del(X)(pter) [n = 3], del(Y)(pter) [n = 1]

Kirchhoff et al., 2004 [14]5del(2)(qter) [n = 5]

Ravnan et al., 2006 [26]56del(3)(pter) [n = 1], del(4)(qter) [n = 2], del(10)(qter) [n = 1], del(17)(pter) [n = 1], del(20)(pter) [n = 1], del(21)(qter) [n = 2], del(Y)(qter) [n = 10], dim(4)(pter) [n = 1], dim(10)(qter) [n = 14], dim(14)(qter) [n = 3], dim(Y)(pter) [n = 1], dup(8)(pter) [n = 1], ?dup(10)(qter) [n = 1], mos dup(10)(qter) [n = 1], der(3)t(3;14)(pter;qter) [n = 1], der(18)t(16;18)(qter;pter) [n = 5], der(18)t(17;18)(pter;pter) [n = 1], der(20)t(X or Y;20)(qter;pter) [n = 1], der(X)t(X;X or Y)(qter;pter) [n = 5], der(22)t(4;22)(pter;pter) [n = 3]

Erjavec-Škerget et al., 2006 [23]5del(2)(qter) [n = 5]

Rauch et al., 2006 [25]52del(9)(pter) [n = 1], del(Y)(qter) [n = 1], del(2)(qter) [n = 5], dim(2)(qter) [n = 24], dim(4)(qter) [n = 18], dim(2qter and 4qter) [n = 1], dim(15)(qter) [n = 2]

Bogdanowicz et al., 2010 [30]3del(2)(qter) [n = 2], dup(7)(qter) [n = 1]

Total149

One patient had dim(10)(qter) familial variant and a clinically significant del(16)(pter). One patient had del(2)(qter) familial variant and a clinically significant del(X)(pter). One patient had del(2)(qter) familial variant and a clinically significant del(1)(pter).