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Home > Resources > The Transmitted Sub-Telomeric Imbalance Collection
The Transmitted Sub-Telomeric Imbalance Collection
Sub-Telomeric Imbalance ChartSub-Telomeric Imbalance Table ReferencesSubmission Form


Group 1, 2 and 3 transmitted sub-telomeric imbalances using FISH or MLPA

Group 1: normal proband and normal parent

Goup 2: affected proband and normal parent

Group 3: affected proband and affected parent

Notes:

1. The extent of these imbalances has been determined in only a few cases and sub-telomeric imbalances associated with deletion or duplication of a single probe may vary greatly in size.

2. The list includes two exceptional de novo cases with a normal phenotype (numbers 20 and 59).

3. There are already established sub-telomeric polymorphisms of 2q, 7q, 9q and 16p.

4. Abnormalities that appear to be the same as transmitted cases but for which parental studies were not available have been excluded.

_
 1. Rearrangement
(del/dim/dup/der) 		2. Size
(Mb) 		3. Con 4. Ascer-
tainment 		5. Mode 6. C 7. Reference 8. Case
1.
del(1)(qterqter)
0.4 A PD MCA mat 3 van Bon et al, 2008 12
13
2.
 dup(1)(qterqter) from
der(X)(X;1)(pter;qter)		 2.9 F
A 		PA DF+;
SS only in mat and gpat		 mat
gpat		 3 Balikova et al, 2007
(Rooms et al, 2006)
(see also del(Xp))		 1
7
3.
 del(2)(pterpter) 0.14 - 0.33 F PD MCA on USS pat
gmat		 3 Gignac et al, 2006 27
4.
del(2)(qterqter) 1.7 A PA MR DF
(low IQ pat) 		pat 2 Balikova et al, 2007 2
5.
 del(2)(qterqter) 0.25 F PA MR DD+ ? 2 Koolen et al, 2004 6
6.
 del(2)(qterqter) 0.24 - 0.29 M PA AHO-like; ?causal pat 2 van Karnebeek et al, 2002  
7.
 del(3)(pterpter) 2.8 A PA DF MR+ pat 2 Balikova et al, 2007 3
8.
 del(3)(pterpter) - F PA ?FRAX pat 2 Ravnan et al, 2006 39
9.
 del(3)(pterpter) - - PA DD+ pat 2 Adeyinka et al, 2005 4
10.
 dup(3)(pterpter) 1.5 A PA DD/MR m/p 2 Martin et al, 2007 51
11.
 dup(3)(pterpter) from
der(X)t(X;3)(pter;pter) 		- F PA DD+ DF mat 2 Rooms et al, 2006
(see also del(Xp))		 8
12.
 dup(3)(qterqter) - F PA Mod MR+ pat 2 Rooms et al, 2006 11
13.
 dup(3)qterqter) - M PA mat 4 Riegel et al, 2001 9

14.
del(4)(pterpter) 0.4 - 0.5 A MC mat 2 Balikova et al, 2007; (Van Buggenhout et al, 2004) 4
15.
 dim(4)(pterpter) - F PA MCA mat 2 Ravnan et al, 2006 176
16.
 dup(4)(pterpter) from der(22)t(4;22)(pter;ptel*) - F PA DD+ mat 2 Ravnan et al, 2006 241
17.
 dup(4)(pterpter) from der(22)t(4;22)(pter;ptel*) - F PA DD mat 2 Ravnan et al, 2006 242
18.
 del(4)(qterqter) 1.0 A PA DD/MR m/p 2 Martin et al, 2007 45
19.
 del(4)(qterqter) 1.15 -1.3 A PA mild MR
brother MR		 mat 3 Balikova et al, 2007 5
20.
 del(4)(qterqter) - F PA pat 2 Ravnan et al, 2006 60
21.
 del(4)(qterqter) - F PA pat 2 Ravnan et al, 2006 61
22.
 del(4)(qterqter) - F PA MR DD+ mat 2 Ravnan et al, 2006 62
23.
 del(4)(qterqter) - - PD mos +7 dn 1 Joyce et al, 2001  
24.
 dup(4)(qterqter) 1.2 A PA DD/MR p/m 2 Martin et al, 2007 52

25.
dup(4)(qterqter) 1.15 -1.3 A PD DF+; pat 2 Balikova et al, 2007
(see also del(17p)		 6
26.
dup/trp(4)(qterqter) - - PD MCA mat;
gmat 		3 Hengstschlager et al, 2005  
27.
 dup(5)(qterqter) - F PA MR+ pat 2 Rooms et al, 2006 9
28.
 dup(6)(pterpter) from
der(22)t(6;22)(pter;p11) 		- - PD < HC mat 2 Hengstschlager et al,2005  
29.
 dup(6)(pterpter) from
der(22)t(22;20;6)(qtel*) 		0.25 F PD MCA pat 2 Bonaglia et al, 2003 (see also dup 20q)  
30.
 del(6)(qterqter) 0.6 - 0.8 A PD MCA mat 3 Balikova et al, 2007
(Le Caignec et al, 2005) 		7
31.
 del(6)(qterqter) - F PA MR DF mat 3 Rooms et al, 2006 6
32.
 del(6)(qterqter) - - PA DD+ pat 2 Adeyinka et al, 2005 2
33.
 dup(8)(pterpter) - F PA DD DF mat 2 Ravnan et al, 2006 205
34.
 del(9)(pterpter) 0.3 A PA DD/MR m/p 2 Martin et al, 2007 46
35.
 del(10)(qterqter) 1.3 A PA DD/MR m/p 2 Martin et al, 2007 47
36.
 del(10)(qterqter) 0.1 F PA DD/MR m/p 2 Martin et al, 2007 48
37.
 del(10)(qterqter) 3.6 A PA MCA mat 2 Balikova et al, 2007 9
38.
 del(10)(qterqter) - F PA SS+ pat 2 Ravnan et al, 2006 101
39.
 del(10(qterqter)   F PA MCA mat   Martin et al, 2002 8
40.
 dim(10)(qterqter) - F PA DD pat 2 Ravnan et al, 2006 177
41.
 dim(10)(qterqter) - F PA DD+ pat 2 Ravnan et al, 2006 178
42.
dim(10)(qterqter) - F PA MCA+ mat 2 Ravnan et al, 2006 179
43.
 dim(10)(qterqter) - F PA DD, DF mat 2 Ravnan et al, 2006 180
44.
 dim(10)(qterqter) - F Not stated mat 2 Ravnan et al, 2006 181
45.
 dim(10)(qterqter) - F PA DD mat 2 Ravnan et al, 2006 182
46.
 dup(10)(qterqter) 0.17 A PA DD/MR p/m 2 Martin et al, 2007 53
47.
 dup(10)(qterqter) from der(17)t(10;17)(q26;qter) 7.8 A PA mild MR+ pat 3 Balikova et al, 2007
(see also del(17q) 		8
48.
 del(11)(pterpter) - F PA MR DF ? 2 Koolen et al, 2004 7
49.
 del(11)(qterqter) - F PA DD+ mat 2 Ravnan et al, 2006 110
50.
 dup(11)(qterqter) 0.6 A PA MCA pat 2 Balikova et al, 2007 10
51.
 del(12)(pterpter) - F PA MR+ ? 2 Koolen et al, 2004 8
52.
 del(12)(pterpter) 1.65 - PA mod MR+ mat 2 Baker et al, 2002  
53.
 dup(12)(pterpter) - - PA DD DF mat 2 Harada et al, 2004 N02
R245
54.
 dup(13)(qterqter) from
der(1)t(1;13)(qtel*;qter)		 - - PA pat; gpat 4 Shaffer et al, 1999 4
55.
 dim(14)(qterqter) - F Not stated mat 2 Ravnan et al, 2006 191
56.
 dup(14)(qterqter) from der(3)t(3;14)(ptel*;qter) - F PA DF+ mat 2 Ravnan et al, 2006 209
57.
 dup(15)(qterqter) from
der(12)(t(12;15)(qtel*;qter)		 0.538 A PA DD/MR p/m 2 Martin et al, 2007  54
58.
del(16)(pterpter) - F PA MR SD DF - 2 Koolen et al, 2004 9
59.
del(16)(pterpter) 0.27 F,M PA alpha thalassaemia mat 2 Horsley et al, 2001 JT
60.
dup(16)(qterqter) from der(18)t(16;18)(qter;ptel*) - F Not stated mat 2 Ravnan et al, 2006 214
61.
dup(16)(qterqter) from der(18)t(16;18)(qter;ptel*) - F PA DD MR mat 2 Ravnan et al, 2006 215
62.
del(17)(pterpter) 0.27-0.36 A PD DF+; pat 2 Balikova et al, 2007
(see also dup(4q))		 6
63.
del(17)(pterpter) - F PA DGS mat 2 Ravnan et al, 2006 127
64.
del(17)(pterpter) from
der(17)t(D/Gp11;pter) 		>/=
0.6 		F MC pat 2 Martin et al, 2002 6
65.
del(17)(pterpter) from
der(17)t(D/Gp11;pter) 		>/=
0.6 		F MC pat 2 Martin et al, 2002 7
66.
 del(17)(qterqter) from
der(17)t(10;17)(q26;qter) 		0.8 A PA mild MR+ pat 3 Balikova et al, 2007
(see also del(17q))		 8
67.
dup(17)(pterpter) from der(18)t(17;18)(pter;ptel*) - F PA DD mat 2 Ravnan et al, 2006 219
68.
dup(17)(qterqter) from
der(Y)t(Y;17)(ptel*;q25.3) 		- - FH t(11p;17p) dn 1 Joyce et al, 2001 C31
69.

 del(18)(pterpter) - - PA MCA pat 2 Adeyinka et al, 2005 3
70.
dup(18)(qterqter) - F PA MR+ mat 2 Koolen et al, 2004 13
71.
del(20)(pterpter) - F PA ?SMS pat 2 Ravnan et al, 2006 133
72.
del(20)(pterpter) - - PA DD+ mat 3 Adeyinka et al, 2005 1
73.
dup(20)qterqter) from
der(22)t(22;20;6)(qtel*)		 0.30 F PD MCA pat 2 Bonaglia et al, 2003
(see also dup(6p)) 		 
74.
 del(21)(qterqter) 1.6 A PA DD/MR m/p 2 Martin et al, 2007 49
75.
del(21)(qterqter) - F PA DD MR+ mat 2 Ravnan et al, 2006 144
76.
 del(21)(qterqter) - F PA MR+ mat 2 Ravnan et al, 2006 145
77.
 dup(21)(qterqter) from der(19)t(19;21)(qtel*;qter) 0.25 F PA AS pat;
gpat 		3 Bonaglia et al, 2007  
78.
dup(22)(qterqter) from
der(21)t(21;22)(p10;q13.3)		 - F PA MR DD DF pat 2 Koolen et al, 2004 14
79.
del(X)(pterpter) from
der(X)(X;1)(pter;qter)		 1.15 -1.3 inc
SHOX 		F
A 		PA DF+;
SS only in mat and gpat 		mat
gpat 		3

Rooms et al, 2006
Balikova et al, 2007
(see also dup(1q))

7
1
80.
del(X)(pterpter) from
der(X)t(X;3)(pter;pter) 		- F PA DD+ DF mat 2 Rooms et al, 2006
(see also dup(3p)) 		8
81.
del(X)(pterpter)   M PA DD CHD mat 2 Riegel et al, 2001 8
82.
del(X)(pterpter) from der(X)t(X;X/Y)(pter;qter) - F PA Hypotonia mat 2 Ravnan et al, 2006 (see also dup(X/Yqterqter)) 346
83.
dup(X/Yqterqter) from der(X)t(X;X/Y)(pter;qter) - F PA Hypotonia mat 2 Ravnan et al, 2006
(see also del(X)(pterpter))		 346
84.
dup(X/YpterX/Ypter) from der(X)t(X;X/Y)(qtel*;pter) - F PA Autism pat 2 Ravnan et al, 2006 223
85.
dup(X/YpterX/Ypter) from der(X)t(X;X/Y)(qtel*;pter) - F PA Hypotonia pat 2 Ravnan et al, 2006 224
86.
dup(X/YpterX/Ypter) from der(X)t(X;X/Y)(qtel*;pter) - F PA DD mat 2 Ravnan et al, 2006 225
87.
dup(X/YpterX/Ypter) from der(X)t(X;X/Y)(qtel*;pter) - F PA MCA mat 2 Ravnan et al, 2006 226
88.
dup(X/YqterX/Yqter) from der(20)t(X/Y;20)(qter;ptel*) - F PA ?FRAX mat 2 Ravnan et al, 2006 222
89.
dim(Y)(pterpter) - F PA MCA pat 2 Ravnan et al, 2006 194
90.
del(Y)(qterqter) 0.317 A PA DD/MR pat 2 Martin et al, 2007  50
91.
del(Y)(qterqter) 0.15 M PA mild MR DF+ pat 2 Balikova et al, 2007 11
92.
del(Y)(qterqter) >0.16

A
M

 PA mild MR mild DF pat 2 Balikova et al, 2007 11
93.
del(Y)(qterqter) - F PA DD pat 2 Ravnan et al, 2006 166
94.
del(Y)(qterqter) - F Not stated pat 2 Ravnan et al, 2006 167

*published karyotypes with “qter” have been changed to “qtel” where there is no reciprocal imbalance.
mat = maternal; pat = paternal; m/p = inherited but maternal or paternal not specified (Martin et al, 2007).


Abbreviations:

Column 1:
del = deletion;
dim = diminution (of FISH signal);
dup = duplication;
der = derived;
pter = short arm sub-telomere;
qter = long arm sub-telomere.

Column 2:
Mb = Megabases of DNA.

Column 3:
Con = confirmed;
A = Array CGH;.
F = FISH;
M = Molecular analysis.

Column 4:
+ = other features;
AHO = Albright Hereditary Osteodystrophy;
AS = Angelman Syndrome;
CHD = Congenital Heart Defect.
DD = Developmental Delay;
DF = Dysmorphic Features;
FH = Family History;
FRAX = Fragile X syndrome;
HC = Head Circumference;
MC = Miscarriages;
MCA = Multiple Congenital Abnormalities;
mos = mosaic;
MR = mental retardation;
PD = Prenatal diagnosis;
PA = Phenotypic abnormality;
SD = Speech Delay;
SMS = Smith Megenis Syndrome;
SS = Short Stature;
USS = Ultrasound Scan;

Column 5:
pat = paternal;
mat =maternal;
gmat = grandmaternal;
gpat = grandpaternal;
dn = de novo.

 

 

 

 

 

 

 
Last Updated: 7 August, 2008 by G. Watkins.
 
© 2006 National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury SP2 8BJ; Tel: +44 (0)1722 429080; E-mail:ncpc@soton.ac.uk