Genetics Research International

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 2

Frequencies and details of subtelomeric rearrangements detected by FISH in patients with ID.


Reference	Total cases	Positive cases	Frequency (%)	De novo	Familial	Unknown inheritance

Knight et al., 1999 [4]	466^†	22	4.7	Deletion: del(1)(p36.3)dn [], del(1)(q44)dn, del(6)(p25)dn, del(9)(p24)dn, del(13)(q34)dn, del(22)(q13.3)dn [] Derivative: der(9)t(9;16)(p24;q24)dn, der(13)t(Y;13)(p11.3;q34)dn, der(18)t(X;18)(q28;q23)dn	Derivative: der(12)t(6;12)(q27;p13.3)mat, der(4)t(4;22)(p16;q13.3)pat, der(9)t(9;13)(q34;p11.1)mat, der(1)t(1;13)(q44;q34)mat, der(4)t(4;11)(p16;p15.5)pat, der(4)t(4;6)(q35;q27)pat, der(1)t(1;19)(p36.3;q13.4)pat, der(4)t(4;20)(q35;p13)pat, der(8)t(8;20)(p23;p13)mat, der(7)t(2;7)(q37;q36)pat

Joyce et al., 2001 [5]	213	11	5.2	Deletion: del(1)(p36.2)dn, del(15)(q26.2)dn Derivative: der(13)t(13;19)(q34;q13.43)dn, der(4)t(4;8)(p16.1;p23.1)dn, der(4)t(4;11)(p16.3;p15.5)dn, mos der(18)t(4;18)(p16.3;q23)dn	Deletion: del(8)(p23.3)pat Derivative: der(2)t(2;14)(q27.3;p11)pat, der(2)t(2;7)(q37.2;q36.3)mat, der(17)t(11;17)(p15.5;p13.3)mat, der(22)t(14;22)(q32.33;q13.31)pat

Fan et al., 2001 [6]	150^‡	6	4.0	Deletion: del(1)(ptel)dn [n = 2]	Derivative: der(1)t(1;3)(qtel;qtel)pat, der(18)t(7;18)(ptel;qtel)mat	Derivative: der(4)t(4;12)(ptel;qtel), der(5)t(5;20)(ptel;ptel)

Sismani et al., 2001 [7]	70^†	1	1.4	Deletion: del(8)(pter)dn

Anderlid et al., 2002 [8]	111^†	11	9.9	Deletion: del(2)(qter)dn, del(4)(pter)dn, del(6)(qter)dn, del(9)(qter)dn Derivative: der(22)t(20;22)(qter;qter)dn	Derivative: der(4)t(2;4)(qter;qter)pat, der(21)t(9;21)(qter;qter)mat, der(17)t(12;17)(qter,qter)pat Others: rec(6)dup(6p)inv(6)(p23q27)pat [n = 2 siblings]	Deletion: del(22)(qter)

Baker et al., 2002 [9]	250^†	8	3.2	Deletion: 22q− dn Derivative: der(5)t(5;16)(q35.3;q24.3)dn	Deletion: 20p− mat Derivative: der(5)t(5;16)(q35.3;q24.3)pat, der(14)t(9;14)(q34.3;q32.33)mat Others: insertion (1p− and 9p+)pat	Deletion: 1p− Others: inversion (1p+ and 1q−)

Popp et al., 2002 [10]	30^‡	6	20.0	Derivative: der(3)t(3;16)(p25;p13.2)dn, der(8)t(8;11)(p23.1;p15.5)dn, der(7)t(7;7)(p22;q36)dn	Deletion: del(8)(p23.1p23.1)pat Derivative: der(5)t(3;5)(q27;p15.3)pat, der(16)t(16;19)(p13.3;p13.3)mat

Dawson et al., 2002 [11]	40^†	3	7.5	Deletion: del(9)(q34.3)dn	Derivative: der(9)t(5;9)(q35.3;q34.3)pat	Derivative: der(3)t(3;11)(p36.3;p15.5)

Clarkson et al., 2002 [12]	50^†	2	4.0		Derivative: der(5)t(5;21)(p13;q21.1)mat Others: rec(11)dup(11p)inv(11)(p15.5q24.3)pat

van Karnebeek et al., 2002 [13]	184^†	1	0.5	Deletion: del(12)(q24.33)dn

Kirchhoff et al., 2004 [14]	94^‡	3	3.2	Deletion: del(22)(qtel)dn [n = 2] Derivative: del(4)(qtel) and dup(7)(ptel) dn

Font-Montgomery et al., 2004 [15]	43^‡	6	14.0	Deletion: del(6)(q27)dn, del(9)(q34.3)dn Derivative: der(6)t(1;6)(q44;q27)dn, der(Y)dn (trisomy for PAR of Xp/Yp)	Derivative: der(4)t(4;5)(q35;p15.3)pat, der(2)t(2;17)(q37.3;p13)pat

Walter et al., 2004 [16]	50^‡	10	20.0	Deletion: del(22)(q13.32)dn, del(4)(p16.3)dn Derivative: der(7)t(7;9)(q36.3p24.1)dn, der(12)t(12;20)(p13p13.3)dn Others: t(17;20)(p13.3q13.33)dn	Derivative: der(4)t(4;7)(p16.3p22)pat, der(9)t(9;18)(p23q22.3)pat, der(7)t(7;10)(q36.3q26.3)mat, der(18)t(18;21)(q22.1q21.3)mat Others: der(7)inv(7)(p22q36.3)mat

Rodriguez-Revenga et al., 2004 [17]	30^‡	2	6.7	Deletion: del(1)(p36)dn	Derivative: der(13)t(1;13)(qter;qter)mat

Bocian et al., 2004 [18]	83	9	10.8	Deletion: del(4)(p16.1p16.3)dn Derivative: der(13)t(X;13)(q28;q34)dn	Derivative: der(13)t(4;13)(p16;q34)pat, der(2)t(2;7)(q37;q36)pat, der(4)t(4;21)(p16;q22)pat, der(6)t(4;6)(q35;q27)pat, der(4)t(4;7)(q33;q34)mat, der(10)t(10;19)(q26;p13.3)mat Others: rec(5)dup(5)(q35.3)inv(5)(p15.33q35.3)pat

Velagaleti et al., 2005 [19]	18^†	2	11.1			Deletion: del(2)(q27.3) Others: t(3;7)(q27;p21.2)

Baroncini et al., 2005 [20]	219^†	12	5.5	Deletion: del(1pter)dn, del(7pter)dn, del(9pter)dn, del(9qter)dn, del(20pter)dn, del(22qter)dn Derivative: der(6)t(6;18)(qter;pter)dn, der(18)t(8;18)(pter;qter)dn	Derivative: der(12)t(12;17)(pter;qter)mat	Derivative: der(2)t(2;17)(qter;qter) Others: t(4;18)(pter;qter), t(1;16)(pter;pter)

Sogaard et al., 2005 [21]	132^†	9	6.8	Deletion: del(1)(p36.3)dn, del(4)(p16.1)dn, del(5)(q35)dn Derivative: mos der(22)t(12;22)(p13;p?)dn	Derivative: der(13)t(5;13)(q35.2;q34)mat [n = 2 siblings], der(9)t(9;22)(q34.2;q13.3)pat	Deletion: del(2)(q37.2) Derivative: der(2)t(2;22)(q37.2;q1?)

Yu et al., 2005 [22]	534^†	7	1.3	Deletion: del(9)(q34)dn Derivative: der(4)t(4;10)(q35.2;p15.3)dn	Derivative: der(22)t(4;22)(p16;q13)pat, der(10)t(10;11)(q26.1;q23.3)mat, der(X)t(X;4)(p22.3;q35.2)mat, der(10)t(7;10)(p22.3;q26.3)pat	Deletion: del(4)(q35)

Erjavec-Škerget et al., 2006 [23]	100^‡	6	6.0	Deletion: del(X)(pter−)dn	Derivative: der(21)t(21;8)(qter−,qter+)pat, der(11)t(11;10)(qter−,qter+)pat	Deletion: del(9)(pter−)(23→pter−) Derivative: der(13)t(13;10)(qter−,q23.3→qter+) Others: rec(X)(qter+, pter−)

Palomares et al., 2006 [24]	50^‡	5	10.0	Deletion: del(9)(q34.3)dn, del(2)(q37.3)dn Derivative: der(1)t(1;22)(p36.3;q13.3)dn, der(15)t(15;17)(q26.3;p25.3)dn	Derivative: der(2)t(2;10)(q37.3;q26.1)pat

Rauch et al., 2006 [25]	500^†	9	1.8	Deletion: del(1)(pter)dn, del(5)(qter)dn, del(9)(qter)dn, del(16)(pter)dn, del(22)(qter)dn Others: t(11;20)(pter;qter)dn	Derivative: der(14)t(14;20)(qter;qter)pat, der(10)t(9;10)(q34.1;q26.1)familial, der(10)t(10;22)(qter;qter)pat

Ravnan et al., 2006 [26]	11688^†	291	2.5	Deletion: del(1)(pter)dn [n = 10], del(1)(qter)dn, del(2)(qter)dn, del(3)(qter)dn [n = 4], del(4)(pter)dn, del(4)(qter)dn, del(6)(qter)dn [n = 2], del(7)(pter)dn, del(8)(pter)dn, del(9)(pter)dn [], del(9)(qter)dn [n = 6], del(10)(pter)dn, del(10)(qter)dn [n = 2], del(13)(qter)dn, del(16)(pter)dn [n = 4], del(18)(qter)dn, del(20)(pter)dn [n = 3], del(20)(qter)dn [n = 2], del(22)(qter)dn [n = 2] Derivative: der(19)t(19;19)(pter;qter)dn, der(13)t(9;13)(qter;pter)dn, der(13)t(13;17)(pter;qter)dn, der(14)t(14;14)(pter;qter)dn, der(14)t(14;16)(pter;pter)dn, der(15)t(X;15)(qter;pter)dn, der(22)t(22;22)(pter;qter)dn, der(1)t(1;4)(pter;pter)dn, der(1)t(1;10)(pter;pter)dn, der(4)t(X;4)(qter;qter)dn, der(6)t(1;6)(qter;qter)dn, der(7)t(7;22)(qter;qter)dn, der(8)t(8;9)(pter;qter)dn, der(9)t(3;9)(pter;pter)dn, der(9)t(X;9)(qter;pter)dn, der(10)t(10;16)(pter;pter)dn, der(13)t(3;13)(qter;qter)dn, der(15)t(X;15)(qter;qter)dn, der(16)t(16;22)(pter;qter)dn, der(20)t(9;20)(pter;pter)dn, der(22)t(6;22)(pter;qter)dn, der(Y)t(Y;X or Y)(qter;pter)dn	Deletion: del(4)(qter)mat, del(11)(qter)mat Derivative: der(7)t(7;16)(pter;pter)pat, der(10)t(10;16)(qter;pter)mat, der(15)t(15;19)(pter;qter)mat, der(2)t(2;17)(qter;pter)pat, der(2)t(2;20)(qter;qter)pat, der(2)t(2;22)(qter;qter)mat, der(4)t(3;4)(qter;pter)pat, der(4)t(4;5)(qter;pter)pat, der(5)t(2;5)(pter;pter)mat, der(5)t(5;7)(pter;pter)mat, der(5)t(5;20)(pter;pter)pat, der(6)t(6;21)(qter;qter)mat, der(7)t(7;19)(pter;qter)mat, der(7)t(5;7)(pter;qter)mat, der(7)t(7;8)(qter;pter)mat, der(7)t(7;11)(qter;pter)mat, der(8)t(2;8)(pter;pter)mat, der(9)t(9;16)(qter;pter)mat, der(10)t(1;10)(pter;qter)mat, der(10)t(8;10)(qter;qter)mat, der(10)t(10;17)(qter;qter)mat, der(11)t(2;11)(qter;qter)mat, der(12)t(12;17)(pter;pter)pat, der(12)t(12;19)(pter;qter)pat, der(12)t(12;19)(qter;pter)pat, der(17)t(9;17)(qter;pter)mat, der(18)t(4;18)(qter;qter)mat, der(21)t(5;21)(pter;qter)pat, der(22)t(16;22)(qter;qter)pat, der(X)t(X;X or Y)(pter;qter)mat	Deletion: del(1)(pter) [n = 18], del(2)(pter) [n = 2], del(2)(qter) [n = 6], del(3)(pter) [n = 4], del(3)(qter) [n = 4], del(4)(pter) [n = 7], del(4)(qter) [n = 4], del(4)(qter) and der(8)t(4;8), del(5)(pter), del(6)(pter), del(6)(qter) [n = 2], del(7)(pter), del(7)(qter), del(8)(pter) [n = 3], del(9)(pter), del(9)(qter) [n = 5], del(10)(pter) [n = 2], del(10)(qter) [n = 6], del(11)(qter) [n = 3], del(12)(pter), del(13)(qter) [n = 2], del(14)(qter) [n = 3], del(15)(qter), del(16)(pter), del(17)(pter) [n = 2], del(18)(qter) [n = 2], del(20)(pter) [n = 5], del(21)(qter), del(22)(qter) [n = 13], del(X)(pter), del(X)(qter), del(Y)(pter) [n = 2] Derivative: der(1)t(1;17)(pter;pter), der(10)t(10;16)(qter;pter), der(15)t(7;15)(qter;qter), der(19 or 20)t(X or Y;19 or 20)(qter;pter or qter), der(13)t(11;13)(qter;pter), der(14)t(7;14)(qter;pter), der(15)t(15;16)(pter;qter), der(15)t(X or Y;15)(qter;pter), der(21)t(17;21)(qter;pter), der(21)t(21;22)(pter;qter), der(22)t(1;22)(qter;pter), der(1)t(1;1)(pter;qter), der(1)t(1;10)(pter;pter), der(1)t(X or Y;1)(qter;pter), der(1)t(1;4)(qter;qter), der(1)t(1;3)(qter;qter), der(1)t(1;15)(qter;qter), der(1)t(1;18)(qter;pter), der(1)t(1;22)(qter;qter), der(2)t(1;2)(qter;qter), der(2)t(2;12)(qter;qter), der(4)t(4;6)(pter;pter) [n = 2], der(4)t(4;8)(pter;pter) [n = 2], der(4)t(4;11)(pter;pter), der(4)t(X or Y;4)(qter;qter), der(5)t(2;5)(pter;pter), der(5)t(5;9)(pter;pter), der(5)t(5;10)(pter;qter), der(5)t(5;14)(pter;qter), der(6)t(6;10)(pter;qter), der(6)t(6;12)(pter;qter), der(6)t(3;6)(qter;qter), der(6)t(6;7)(qter;pter), der(7)t(7;7)(pter;qter), der(7)t(7;16)(pter;pter), der(7)t(2;7)(qter;qter), der(7)t(7;9)(qter;qter), del(4)(qter) and der(8)t(4;8), der(8)t(8;8)(pter;qter), der(8)t(8;10)(pter;qter), der(8)t(8;12)(pter;pter) [n = 2], der(8)t(8;18)(pter;qter), der(9)t(7;9)(pter;qter), der(9)t(9;17)(qter;pter), der(10)t(7;10)(qter;pter), der(10)t(4;10)(pter;qter), der(10)t(4;10)(qter;qter), der(10)t(8;10)(qter;qter), der(10)t(10;10)(qter;pter), der(10)t(10;21)(qter;qter), der(11)t(11;12)(qter;qter) [n = 2], der(12)t(12;20)(pter;pter), der(13)t(2;13)(qter;qter), der(13)t(3;13)(qter;qter), der(14)t(X or Y;14)(pter;qter), der(15)t(3;15)(qter;qter), der(15)t(9;15)(qter;qter), der(16)t(16;16)(pter;qter), der(18)t(18;18)(pter;qter), der(18)t(2;18)(pter;qter), der(18)t(4;18)(qter;qter) [n = 2], der(18)t(10;18)(pter;qter), der(18)t(14;18)(qter;qter), der(20)t(5;20)(qter;pter), der(21)t(14;21)(qter;qter), der(22)t(12;22)(qter;qter), der(X)t(X;14)(pter;qter), der(X)t(X;X or Y)(pter;qter) [n = 2], der(X)t(X;3)(qter;pter), del(X)(pter)/der(X)t(X;15)(pter;qter) Others: dup(4)(qter), idic(Y)(q11.2), t(1;5)(qter;qter), t(6;12)(qter;qter), t(19;21)(pter;qter), t(5;6)(qter;qter), der(22)ins(22;X or Y)(q11.2;pter)

Ütine et al., 2009 [27]	130^†	3	2.3	Deletion: del(22)(qter)dn Derivative: der(4)t(4;8)(pter;pter)dn	Derivative: der(9)t(4;9)(qter;pter)mat

Mihçi et al., 2009 [28]	107^‡	9	8.4	Deletion: del(1)(pter−)dn [n = 2], del(3)(qter−)dn, del(9)(pter−)dn, del(9)(qter−)dn Derivative: der(18)t(18;22)(qter−;qter+)dn	Derivative: der(5)t(5;15)(pter−;qter+)pat [n = 2 siblings] Others: rec(10)dup(10p)inv(10)(p13q26)mat

Belligni et al., 2009 [29]	76^‡	10	13.2	Deletion: del(1)(p36)dn [n = 2], del(9)(q34qter)dn Derivative: der(6)(ptel−;qtel++)dn, der(5)t(5pter;10qter)dn, t(1;13)(p32.2;q31.1)dn	Derivative: der(9)t(9;16)(9pter-9q34.3::16q24.3-qter)pat, der(20)t(16;20)(q24;q13.3)pat, der(6)t(6;1)(p22.3;q44)mat, der(7)t(7;12)(q34;q24.32)mat

Bogdanowicz et al., 2010 [30]	76^‡	4	5.3	Deletion: del(1)(p36.3−)dn [n = 2] Derivative: der(1)t(1;12)(p36.3,q24.3+)dn Others: t(19;22)(q13.4−,q13.3+;q13.3−,q13.4+)dn

dos Santos and Freire-Maia, 2012 [31]	15^‡	0	0

Our study	82^†	5	6.1	Deletion: del(1)(p36.32)dn Derivative: der(3)t(X;3)(p22.3;p26.3)dn		Deletion: del(4)(p16.3) Derivative: der(10)t(7;10)(p22.3;q26.3), der(20)t(X;20)(p22.3;q13.3)

Summary	15,591	473	3.0

We included 13 patients, who had subtle subtelomeric rearrangements detected by high resolution G-banding. Of these, 10 cases had subtelomeric rearrangements detected by FISH. We excluded del(4)(q35.2)dn and der(Y)t(Y;17)(pter;q25.3)dn that were detected in 150 controls. Father was balanced translocation with deletion and duplication of 8p231. We excluded one case as FISH was performed in a normal father of 3 deceased patients with severe ID. The FISH result in the father revealed t(7;10)(q36;q26). We excluded 9 patients with interstitial deletions that were detected with control probes. The same individual. Karyotype nomenclature here is as shown in the original article but it was actually an unbalanced rearrangement (trisomy for 1p32.2 and monosomy for 13q31.1). Note that 1p32.1 and 13q31.1 are actually not subtelomeric regions. The same abnormality also found in parent but not a familial variant. ^†ID with or without dysmorphism. ^‡ID with dysmorphism. +: gain, −: loss, dn: de novo, del: deletion, der: derivative, dim: partial deletion or diminished signal, dup: duplication, ins: insertion, inv: inversion, idic: isodicentric, mat: maternal, mos: mosaic, pat: paternal, rec: recombinant, tel: telomere, ter: terminal, and t: translocation.