Cytogenetic Abnormalities Implicated in Cases with Autism; an Overview of All Published

Cytogenetic Abnormalities Implicated in Cases With Autism; an Overview of All Published Regions Of Interest (CROIs) with Regard to the Autism Phenotype

Notes:

1)In some cases the karyotype annotation has been adapted to meet the standards of ISCN1995 format.

2)In some cases the karyotype annotation has been corrected based upon current localization of molecular markers and DNA-probes.

3)Case entries can be tracked in the chromosome ideogram by identifying bar(s) with the same color, thicker bars indicate a higher number of cases in the same case report.

4)Phenotype rating is based upon the following criteria:

Quality of phenotype / Criteria
***** (5) / Validated checklist and diagnosis according DSM or ICD classification
**** (4) / Validated checklist or diagnosis according DSM or ICD classification and clinical description
*** (3) / Diagnosis with clinical description without classification.
** (2) / Clinical description highly suggestive for autism but without formal diagnosis.
* (1) / Some clinical autistic like features – no formal diagnosis

5)In each case, the optimal identification of the molecular boundaries of CROIs is presented using a megabase (Mb) scale. When available, positions of molecular markers or DNA-probes were used. For chromosome 15 and 22, the position of low copy repeats (LCR) were used based upon available literature and information from the UCSC genome browser ( In cases where only a karyotype was available, the relevant chromosome bands were used to obtain the approximate molecular boundaries of the CROI.

6)In some cases the authors were contacted in an attempt to obtain more updated information (for instance on the position of molecular marker results or methods used to obtain the autism spectrum diagnosis). These entries are annotated with “pers. comm”.

7)Abbreviations: “ASD” = Autism Spectrum Disorder, “BP” = Breakpoint, “Pers. comm.” = Personal communication with author,

“LCR” = Low Copy Repeat.

8)Annotations of molecular markers/DNA-probes used for FISH:

-“marker+” : normal copy number; n=2. [in case of an inv dup chromosome: the marker is detected on the supernumerary chromosome]

-“marker-“ : marker deleted; n=1. [in case of an inv dup chromosome: the marker is not detected on the supernumerary chromosome]

-“marker++” : marker duplicated; n=3. [in case of an inv dup chromosome: two copies of the marker are detected on the supernumerary chromosome]

-“markerA*BP*markerB” : breakpoint is flanked by markers A and B.

-“Marker (spanning BP)” : marker spans the breakpoint.

Chromosome-1

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
1pter –1p36.33 / 46,X?,del(1)(p36.33) / Pter – 2.30 Mb
Array-CGH (PRKCZ-) / - / 1 / ** / (Patil et al. 2004)
1pter –
1p36.3 / 46,XX, der(1)t(1;18)(p36.3;q23)
leading to
dup(18)(q23→qter) and del(1)(p36.3) / Pter – 7.10 Mb
(approximate) / - / 1 / * / Del(1)(q36)syndrome.
See chromosome 18. / (Lennon et al. 2004)
1pter –
1p36.2 / 46, XY,t(1;12)(p36.2;q24.31)mat / Pter – 15.60 Mb
(approximate) / + / 1 / * / Mother no ASD.
See chromosome 12. / (Stipoljev and Gjergja 2004)
1p35.3 / 46,XY,t(1;15)(p35.3;q24.2) / 27.70 – 30.00 Mb
(approximate) / = / 1 / ***** / See chromosome 15. / (Castermans et al. 2003)
1p31 / 46,X?,t(1;2)(p31;q21). / 60.10 – 84.60 Mb
(approximate) / = / 1 / ** / See chromosome 2. / (Edelmann et al. 2003)
1p22 / 46,XY,t(1;7)(p22;q21)pat / 84.60 – 94.50 Mb
(approximate) / = / 1 / **** / Three relatives with same t(1;7) without ASD, one with language delay.
See chromosome 7. / (Yan et al. 2000; Gordon et al. 1994)
1p22.1 / 46,XY,-1,-7,-21,t(1;7;21) (1qter→1p22.1::21q22.3→21qter;7pter→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)de novo / 91.70 – 94.50 Mb
(approximate) / = / 1 / **** / See chromosomes 7 and 21. / (Lopreiato and Wulfsberg 1992)
1q42 –
1qter / 46,XX,del(1)(q42) / 219.80 – 245.52 Mb
(approximate) / - / 1 / * / (Halal et al. 1990)
1q43 –
1qter / 46,XX,del(1)(q43) / 232.90 – 245.52 Mb
(approximate) / - / 3 / ** / (Murayama et al. 1991)
1qter / 46,XX,der(6)t(1;6)(q44;qter) / 239.50 – 245.52 Mb
Ish telomeric probes, (approximate) / + / 1 / * / See chromosome 6. / (Font-Montgomery et al. 2004)
Chromosome-2

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
2p21.3 / 46,XX,t(X;2)(p11.4;p21.3) / 41.70 – 47.70 Mb
(approximate) / = / 1 / * / See chromosome X. / (Zemni et al. 2000)
2p12 / 46,XY,t(2;18)(p12;q11.2) / 78.39 – 78. 53 Mb
RP11-798J16 (spanning BP) / = / 1 / * / BAC maps to 2p12.
See chromosome 18. / (Castiglia et al. 2004)
2p11 / 46,XY,inv(2)(p11q13)pat
3q+de novo / 83.30 – 93,40 Mb
(approximate) / = / 1 / ***** / Father no ASD.
See chromosomes 3 and 15 / (Konstantareas and Homatidis 1999)
2q13 / 46,XY,inv(2)(p11q13)pat,
3q+de novo / 108.70 – 113.90 Mb
(approximate) / = / 1 / ***** / Father no ASD.
See chromosomes 3 and 15 / (Konstantareas and Homatidis 1999)
2q14 –
2q21 / 46,X?,t(1;2)(p31;q21).
Leading to del(2)(q) / 128.07 – 138.44 Mb
ish(RP11270M20+, RP11314L11-)
BAC RP11171B14( spanning distal BP) / - / 1 / ** / See chromosome 1. / (Edelmann et al. 2003)
2q24.3 / 46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21) / 167.83 – 168.01 Mb
RP11-681B22 (spanning BP) / = / 1 / ***** / Bac maps to 2q24.3.
See chromosomes 5 and 6. / (Gribble et al. 2005)
2q32.1 –
2q32.3 / 46,XY,del(2)(q32.1q32.2) or (q32.2q32.3) / 182.80 – 197.30 Mb
(approximate) / - / 1 / ***** / (Gallagher et al. 2003)
2q34 / 46,XX,del(2)(q34) / 205.86 – 217.71 Mb
AFM224ZG5+, D2S155-, D2S137-, D2S301+ / - / 1 / ***** / (Pescucci et al. 2003)
2q36 / 46,XY,t(2;8)(q36;q21.3) / 222.63 – 226.20 Mb
D2S339+, D2S2323-, D2S351-, D2S2204+
~4 Mb deletion at BP in 2q36. / - / 1 / ***** / Probes map to 2q36. See chromosome 8. / (Borg et al. 2002)
2q37.1 –
2qter / 46,X?,del(2)(q37.1) / 230.80 – 243.02 Mb
(approximate) / - / 1 / **** / (Lucchese, Takahashi, and Miles 2003)
2q37.1 –
2qter / 46,X?,del(2)(q37.1) / 230.80 – 243.02 Mb
(approximate) / - / 1 / ** / (Patil et al. 2004)
2q37 –
2qter / 46,X?,der(2)t(2;?)(q37;?) / 230.80 – 243.02 Mb
(approximate) / - / 1 / *** / (Stein et al. 1992)
2q37 –
2qter / 46,XY,der(2)t(2;6)(q37;p23)mat / 230.80 – 243.02 Mb
(approximate) / - / 1 / **** / Mother same t(2;6) but no ASD.
See chromosome 6. / (Burd et al. 1988)
2q37 –
2qter / 46,XY,del(2)(q37) / 230.80 – 243.02 Mb
(approximate) / - / 1 / ***** / (Ghaziuddin and Burmeister 1999)
2q37.2 –
2qter / 46,XY,del(2)(q37.2 / 235.40 – 243.02 Mb
(approximate) / - / 1 / ***** / (Ghaziuddin and Burmeister 1999)
2q37.2 –
2qter / 46,X?,del(2)(q37.2) / 235.40 – 243.02 Mb
(approximate) / - / 1 / * / (Conrad et al. 1995)
2q37.3 –
2qter / 46,XX,del(2)(q37.3) / 235.74- 243.02 Mb
ish(RP11-367B19+, RP11-110K9-) / - / 1 / ***** / (Smith et al. 2001; Smith et al. 2003)
2q37.3 –
2qter / 46,XX,del(2)(q37.3) / 236.50 – 243.02 Mb
ish(RP11-680O16+, RP11-20F21-) / - / 1 / ** / (Lukusa et al. 2004)
2q37.3 –
2qter / 46,XY,del(2)(q37.3) / 236.95 – 243.02 Mb
ish(D2S1972+, D2S447-, D2S2986-) / - / 1 / ***** / (Wolff et al. 2002)
2q37.3 –
2qter / 46,X?,del(2)(qter) / 237.10 – 243.02 Mb
Array CGH (D2S447-) / - / 2 / ** / (Patil et al. 2004)
2q37.3 –
2qter / 46,X?,del(2)(q37.3) / 237.10 – 243.02Mb
ish(D2S447-,D2S2986-) / - / 1 / * / (Wenger et al. 2004)
Chromosome-3

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and marker references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
3p24 / 46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12) / 16.40 – 32.20 Mb
(approximate)
M-Fish
Complex apparently balanced rearrangement / = / 1 / *** / See chromosomes 6,9,10 and 14. / (Lespinasse et al. 2004)
3p24.3 –
3p21.1 / 46,XY,inv,dup,del(3) (p21.1;p24.3;p12.3; q21.1) (pter→p21.1::p24.3→p21.1::q21.1→p12.3::q22→qter) / 16.40 – 54.40 Mb
(approximate) / + / 1 / ***** / See chromosomes. 5,16, 17 / (Mariner et al. 1986)
3p21.1 –
3p12.3 / 46,XY,inv,dup,del(3) (p21.1;p24.3;p12.3; q21.1) (pter→p21.1::p24.3→p21.1::q21.1→p12.3::q22→qter) / 52.30 – 79.90 Mb
(approximate) / - / 1 / ***** / See chromosomes. 5,16, 17 / (Mariner et al. 1986)
3q21.1 –3q22 / 46,XY,inv,dup,del(3) (p21.1;p24.3;p12.3; q21.1) (pter→p21.1::p24.3→p21.1::q21.1→p12.3::q22→qter) / 123.30 – 140.40 Mb
(approximate) / - / 1 / ***** / See chromosomes. 5,16, 17 / (Mariner et al. 1986)
3q25 / 46,XY,del(3)(q25q25) / 150.40 – 162.20 Mb
(approximate) / - / 1 / ** / (Slavotinek et al. 1997)
3q25 / 46,XY,t(3;4)(q25;q27) mat / 150.40 – 162.20 Mb
(approximate) / = / 1 / *** / Mother no ASD.
(Pers. comm. Medne)
See chromosome 4. / (Medne et al. 2003)
3q? / 46,XY,inv(2)(p11q13)pat,
3q+de novo / Not further specified / + / 1 / ***** / Father no ASD.
See chromosomes 2, 13,15 / (Konstantareas and Homatidis 1999)
Chromosome-4

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
4pter –
4p12 / 46,XY,der(4)?t(4;4)(p12q28) / Pter – 48.90 Mb
ish(4ptel++,4qtel-) / + / 1 / * / (Pers. comm. Medne) / (Medne et al. 2003)
4pter –
4p14 / 46,XX,der(8)t(4;8)(p14;p21) / Pter – 41.10 Mb
(approximate) / + / 1 / ***** / (Pers. comm. Medne)
See chromosome 8. / (Medne et al. 2003)
4pter –
4p16 / 47,X?,+der(15)t(4;15)(p16;q13), / Pter – 11.00 Mb
(approximate) / + / 1 / **** / See chromosome 15. / (Lucchese, Takahashi, and Miles 2003)
4p15.3 / 46,XY,inv(4)(p12p15.3)mat / 11.90 – 12.39 Mb
D4S3036*BP*D4S2906 / = / 2 / ** / 2 Brothers and mother same inv(4) but no ASD. / (Choufani et al. 2003)
4p12 / 46,XY,inv(4)(p12-p15.3)mat / 45.77 – 46.16 Mb
D4S1536*BP*D4S396 / = / 2 / ** / 2 Brothers and mother same inv(4) but no ASD. / (Choufani et al. 2003)
4p13 –4p12 / 46,XY,dup(4)(p12p13) / 41.10 – 48.90 Mb
(approximate) / + / 1 / **** / (Sabaratnam, Turk, and Vroegop 2000)
4q21.3 / 46,XY,t(4;12)(q21.3;q15)mat / 87.30 – 88.40 Mb
(approximate) / = / 2 / **** / Monozygotic twins.
Mother no ASD.
See chromosome 12. / (Nasr and Roy 2000)
4q24 / 46,XY,t(4;16)(q24;p13.3) / 101.40 – 108.00 Mb
(approximate) / = / 1 / ** / See chromosome 16 / (Gilling et al. 2003)
4q27 / 46,XY,t(3;4)(q25;q27) mat / 121.10 – 124.30 Mb
(approximate) / = / 1 / *** / Mother no ASD.
(Pers. comm. Medne)
See chromosome 3 / (Medne et al. 2003)
4q28 –
4qter / 46,XY,der(4)?t(4;4)(p12q28) / 124.30 – 191.11 Mb
Ish (4ptel++,4qtel-) / - / 1 / * / (Medne et al. 2003)
4q31.3 –
4q34 / 46,X?,del(4)(q31.3;q34) / 152.00 – 183.60 Mb
AMPA-, CPE-,GLRA3-(approximate) / - / 1 / ** / (Smith et al. 2003)
4q31.3 –4q33 / 46,XY,del(4)(q31.3q33) / 158.08 – 177.32 Mb
ish(RP11-90K3+, RP11-704A20-,
RP11-272N13-, RP11-79K2+) / - / 1 / ***** / (Ramanathan et al. 2004)
Chromosome-5

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
5pter –
5p14 / 46,XY,del(5)(p14) / Pter – 29.30 Mb
(approximate) / - / 1 / **** / cri-du-chat. / (Cantu et al. 1990)
5pter –
5p15 / 46,XY,del(5)(p15) / Pter – 18.50 Mb
(approximate) / - / 1 / **** / cri-du-chat. / (Cantu et al. 1990)
5pter –
5p15.3 / 45,X,psu dic(Y;5)(q12;p15.3) / Pter – 9.90 Mb
(approximate) / - / 1 / **** / see chromosome Y / (Vostanis et al. 1994)
5pter –
5p15.33 / 46,XY,del(5)(p15.33) / Pter – 4.50 Mb
ish(5ptel-,D5S23+) / - / 1 / *** / (Stathopulu, Ogilvie, and Flinter 2003)
5pter –
5p15.33 / 46,XY,inv(5)(p13.3p15.33)mat / Pter – 4.50 Mb
(approximate) / = / 1 / *** / Mother no ASD. / (Tranebjaerg and Kure 1991)
5p14.2 –
5p15.1 / 46,XY,dup(5)(p?14.2p?15.1)mat / 15.10 – 24.70 Mb
(approximate) / + / 1 / ***** / Mother no ASD.
See chromosome 15. / (Keller et al. 2003)
5p13.3 / 46,XY,inv(5)(p13.3p15.33)mat / 29.20 – 34.40 Mb
(approximate) / = / 1 / *** / Mother no ASD. / (Tranebjaerg and Kure 1991)
5q12.1 / 46,XY,t(5;13)(q12.1;q13.2) / 58.90 – 63.00 Mb
(approximate) / = / 1 / ***** / See chromosome 13 / (Castermans et al. 2003)
5q13 / 46,XY,t(5;6)(q13;p23) / 66.70 – 76.90 Mb
(approximate) / = / 1 / *** / See chromosome 6 / (Li et al. 1993)
5q14 / 46,XX,t(5;7)(q14;q34)mat / 76.90 - 91.90 Mb
(approximate) / = / 1 / ***** / Mother / 2 sisters same t(5;7), no ASD.
See chromosome 7. / (Tentler et al. 2001)
5q14 / 46,XY,t(5;7)(q14;q31.31) / 76.90 – 91.90 Mb
(approximate) / = / 1 / ***** / See chromosome 7. / (Cheung et al. 2001; Scherer et al. 2003; Vincent et al. 2002; Vincent et al. 2003)
5q15 –
5q22.3 / 46,XX,del(5)(q15q22.3) / 91.90 – 115.20 Mb
(approximate)
MCC-, APC-
Genomic Southern Blot. / - / 1 / *** / (Barber et al. 1994)
5q23.2 / 46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21) denovo / 124.01 – 124.18 Mb
RP11-436H11(spanning BP) / = / 1 / ***** / See chromosomes 2 and 6. / (Gribble et al. 2005)
5q31.1 / 46,XY,t(5;8;17)(q31.1;q24.1;q21.3) / 132.20 – 137.20 Mb
(approximate) / = / 1 / ***** / See chromosomes 8 and 17. / (Zwaigenbaum, Heshka, and Xu 2004)
5q33.1 / 46,XY,t(5;18)(q33.1;q12.1) / 149.80 – 152.70 Mb
(approximate) / = / 1 / ***** / See chromosome 18. / (Kroisel et al. 2004; Windpassinger et al. 2002)
5q34 / 46,XX,t(5;18)(q34;q12) / 159.90 – 168.40 Mb
(approximate) / = / 1 / ** / See chromosome 18. / (Bugge et al. 2000; Gilling et al. 2003)
5p? / 46,XY,5p+ / Not further specified / ? / 1 / ***** / (Mariner et al. 1986)
5? / 46,XX,t(5;11)(?;q?) / Not further specified. / = / 1 / *** / See chromosome 11 / (Ritvo et al. 1990)
Chromosome-6

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
6pter –
6p23 / 46,XY,der(2)t(2;6)(q37;p23)mat / Pter – 15.30 Mb
(approximate) / + / 1 / **** / Mother no ASD.
See chromosome 2 / (Burd et al. 1988)
6p23 / 46,XY,t(5;6)(q13;p23) / 13.50 – 15.30 Mb
(approximate) / = / 1 / *** / See chromosome 5 / (Li et al. 1993)
6p12 / 46,XY,t(6;7)(p12;q22.1)pat / 46.30 – 57.50 Mb
(approximate) / = / 1 / ***** / Father no ASD.
See chromosome 7. / (Scherer et al. 2003; Vincent et al. 2003; Choufani et al. 2004)
6q21 / 46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12) / 105.10 – 114.50 Mb
(approximate) M-Fish
Complex apparently balanced rearrangement / = / 1 / *** / See chromosomes 3,9,10 and 14. / (Lespinasse et al. 2004)
6q21 / 46,XX,t(2;5)(q24.3;q23.2),
del(6)(q21q21) / 106.04 – 108.21 Mb
RP3-454N4, RP11-35D6 (spanning BP)Array-CGH / - / 1 / ***** / See chromosome 2 and 5. / (Gribble et al. 2005)
6q25.1 –
6q25.3 / 46,XY,del(6)(q25.1q25.3) / 152.22 –161.00 Mb.
ish(ESR+,TBP+). / - / 1 / *** / (Sukumar et al. 1999)
6q27 –
6qter / 46,XX,der(6)t(1;6)(q44;q27) / 164.50 – 170.98 Mb
Ish subtelomeric probes. / - / 1 / * / See chromosome 1. / (Font-Montgomery et al. 2004)
Chromosome-7

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
7pter –
7p21 / 46,XY,del(7)(p21)inv(7)(p13;p21) / Pter – 20.70 Mb
(approximate) / - / 1 / **** / (Herder 1993; Gillberg 1998)
7pter –
7p21 / 47,XY,+der(21)t(7;21)(p21; q21.3)mat / Pter – 18.16 Mb
D7S507+, D7S2474+, D7S488-. / + / 1 / ** / Mother no ASD.
See chromosome 21 / (Ahlbom et al. 2003)
7p22.2 / 46,X?,del(7)(p22.2p22.2)pat / 4.13 – 4.34 Mb
4,13 – 4,34 Mb (RS2005745+, D7S472-, D7S517-, RS975926+): Deletion size ~183 Kb.
One entry with AU098 / AU026 / - / 2 / ***** / Family AU044. Two sibs with ASD, One sib with deletion, but without ASD. / (Yu et al. 2002)
7p22.2 / 46,X?,del(7)(p22.2p22.2)pat / 4,21 – 4,34 Mb (RS2005745+, D7S472+ D7S517-, RS975926+)
Deletion size ~96 Kb
One entry with AU098 / AU044 / - / 1 / ***** / Family AU098. One sib with ASD but without the del(7). / (Yu et al. 2002)
7p22.2 / 46,X?,del(7)(p22.2p22.2)mat / 4,21 –?4,45 Mb
(RS2005745+, D7S472+ D7S517-, RS975926-)
Deletion size ~240 Kb assumed
One entry with AU098 / AU044 / - / 1 / ***** / Family AU026. One sib with same del(7) and “broader phenotype”. / (Yu et al. 2002)
7p11.2 –
7p14.1 / 46,XY,dup(7)(p14.1p11.2) / 37.00 – 56.90 Mb
(approximate) / + / 1 / **** / (Wolpert et al. 2001)
7p13 / 46,XY,del(7)(p21)inv(7)(p13;p21) / 43.10 – 47.10 Mb
(approximate) / = / 1 / **** / (Herder 1993; Gillberg 1998)
7p12.2 / 46,XY,inv(7)(p12.2;q31.3) / 49.80 – 50.80 Mb
(approximate) / = / 1 / ***** / (Warburton et al. 2000)
7q11.2 / 46,X?,t(7;20)(q11.2;p11.2) / 68.81 – 69.03 Mb
(Exon 2 AUTS2)*bp* (Exon 3 AUTS2) / = / 2 / ** / Monozygotic twins. See chromosome 20. / (Sultana et al. 2002; Sultana et al. 2003)
7q11.23 / 46,XY,-1,-7,-21,t(1;7;21) (1qter→1p22.1::21q22.3→21qter;7pter→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter)de novo / 71.60 – 77.20 Mb
(approximate) / = / 1 / **** / See chromosomes 1 and 21. / (Lopreiato and Wulfsberg 1992)
7q11.23 / 46,X_,del(7)(q11.23q11.23) / 71.81 – 73.67 Mb
(approximate)
Williams Syndrome critical region / - / 5 / ***** / Williams Syndrome. / (Verloes et al. 2004)
7q21 / 46,XY,t(7;12)(q21;q15) / 77.20 – 97.60 Mb
(approximate) / = / 1 / **** / See chromosome 12. / (Bugge et al. 2000; Lauritsen et al. 1999)
7q21.13 / 46,XY,del(7)(q21.13q21.13)pat / 88.07 – 88.17 Mb
D7S630-, RS1016807+ / - / 2 / ***** / Family AU018 / (Yu et al. 2002)
7q21 / 46,XY,t(1;7)(p22;q21)pat / 89.20 – 89.55 Mb.
D7S2660*BP*D7S1641 / = / 1 / **** / Three relatives with same t(1;7) without ASD, one with language delay.
See chromosome 1. / (Yan et al. 2000; Gordon et al. 1994)
7q22.1 / 46,XX,inv(7)(q22.1q34)mat / 97.60 – 103.40 Mb
(approximate) / = / 1 / ***** / Mother and twin sib same inv(7), no ASD.
(Pers. comm. Medne) / (Medne et al. 2003)
7q22.1 / 46,XY,t(6;7)(p12;q22.1) / 97.82 – 97.98 Mb
RP11-157M10(spanning BP) / = / 1 / ***** / Father no ASD.
See chromosome 6. / (Scherer et al. 2003; Vincent et al. 2003; Choufani et al. 2004)
7q22 / 46,XY,inv(7)(q22q31.1)mat / 98.84 – 99.04 Mb
RP11-316A24(spanning BP) / = / 3 / Case1,2: *****
Case 3: * / Mother no ASD
(Pers. comm. Skaar) / (Ashley-Koch et al. 1999; Skaar et al. 2003)
7q31.1 / 46,XY,inv(7)(q22q31.1)mat / 108.40 –108.58 Mb
RP11-21G9(spanning distal BP) / = / 3 / Case1,2:*****
Case 3: * / Mother no ASD
(Pers. comm. Skaar) / (Ashley-Koch et al. 1999; Skaar et al. 2003)
7q31.2 / 46,XY,t(7;11)(q31.2;q25) / 114.60 – 114.61 Mb
RP11-505F9 (spanning BP) / = / 1 / ***** / See chromosome 11. / (Vincent et al. 2003; Scherer et al. 2003)
7q31.3 / 46,XY,t(7;13)(q31.3;q21) / 116.18 – 116.46 Mb
(Exon 9 RAY1)*bp* (Exon 10 RAY1) / = / 1 / ***** / See chromosome 7. / (Vincent et al. 2000; Cheung et al. 2001; Vincent et al. 2003)
7q31.3 / 46,XY,inv(7)(p12.2;q31.3) / 116.90 – 120.33 Mb
D7S677, CFTR *BP*D7S643 / = / 1 / ***** / (Warburton et al. 2000)
7q31.3 / 46,XY,t(7;13)(q31.3;q21.3), inv(11)(p15.3p15.5)pat / 117.00 – 125.90 Mb
(approximate) / = / 1 / *** / Father no ASD.
See chromosome 13. / (Gribble et al. 2005)
7q31.31 / 46,XY,t(5;7)(q15;q31.31) / 118.49 – 119.14 Mb
D7S2179*BP*D7S1902 / = / 1 / ***** / Probes map to 7q31.31.
See chromosome 5. / (Cheung et al. 2001; Vincent et al. 2002; Vincent et al. 2003; Scherer et al. 2003)
7q34 / 46,XX,t(5;7)(q14;q34)mat / 140. 92 –140.93 Mb
RP5-1154E9 (spanning BP)
T2R3*BP*T2R4 / = / 1 / ***** / Mother / 2 sisters same t(5;7) but no ASD.
See chromosome 5. / (Tentler et al. 2001)
7q34 / 46,XX,inv(7)(q22.1q34) / 137.10 – 143.00 Mb
(approximate) / = / 1 / ***** / Mother and twin sib same inv(7), no ASD.
(Pers. comm. Medne) / (Medne et al. 2003)
7q36.1 / 46,XY,-1,-7,-21,t(1;7;21) (1qter→1p22.1::21q22.3→21qter;7pter→7q11.23::7q36.1→7qter;
21pter→21q22.3::7q36.1→
7q11.23::1p22.1→1pter) / 147.30 – 152.00 Mb
(approximate) / = / 1 / **** / See chromosomes 1 and 21 / (Lopreiato and Wulfsberg 1992)
Chromosome-8

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
8pter –
8p21 / 46,XX,der(8)t(4;8)(p14;p21) / Pter – 28.90 Mb
(approximate) / - / 1 / ***** / (Pers. comm. Medne).
See chromosome 4. / (Medne et al. 2003)
8pter –
8p23 / 46,XX,del(8)(p23) / Pter – 12.70 Mb
(approximate) / - / 1 / *** / (Wassink, Piven, and Patil 2001)
8p23.3 / 46,X?,del(8)(p23.3p23.3)mat / 2.11 – 2.28 Mb
RS897445+,D8S264-,RS936553+
Deletion size ~ 260 – 283 Kb
One entry with AU113 / - / 2 / ***** / Family AU058. Two sibs with ASD. / (Yu et al. 2002)
8p23.3 / 46,X?,del(8)(p23.3p23.3)mat / 2.11 – 2.28 Mb
RS897445+,D8S264-,RS936553+
Deletion size ~ 252– 266 Kb
One entry with AU058 / - / 1 / ***** / Family AU113 / (Yu et al. 2002)
8p22 / 46,XY,del(8)(p22) / 12.70 – 19.10 Mb
(approximate) / - / 1 / **** / (Lucchese, Takahashi, and Miles 2003)
8q21.3 / 46,XY,t(2;8)(q36;q21.3) / 91.49 – 93.09 Mb
D8S1724*BP*D8S270
~0.3 Mb deletion at BP in chr. 8 / - / 1 / ***** / See chromosome 2. / (Borg et al. 2002)
8q22.1 / 46,X,t(X;8)(p22.2;q22.1) / 97.69 – 99.10 Mb
SDC2*BP*? / = / 1 / ***** / See chromosome X. / (Ishikawa-Brush et al. 1997; Bolton et al. 1995)
8q24.1 –
8qter / 46,XX,?8,der(8)t(8;?)(q24.1;?) / 117.70 – 146.27 Mb
(approximate) / - / 1 / ***** / (Weidmer-Mikhail, Sheldon, and Ghaziuddin 1998)
8q24.1 / 46,XY,t(5;8;17)(q31.1;q24.1;q21.3) / 117.70 – 127.30 Mb
(approximate) / = / 1 / ***** / See chromosomes 5 and 17. / (Zwaigenbaum, Heshka, and Xu 2004)
8q24.23 / 46,X?,del(8)(q24.23q24.23)pat / 137.10 – 137.99 Mb
D8S272-
Deletion size ~ 192 Kb
One entry with AU141 / AU142/ U02. / - / 1 / ***** / Family AU002.
One sib with deletion but no ASD, one sib with ASD but no deletion. / (Yu et al. 2002)
8q24.23 / 46,X?,del(8)(q24.23q24.23)mat / 137.10 – 137.99 Mb
D8S272-
Deletion size ~ 192 Kb
One entry with AU002 / AU142/ U02. / - / 2 / ***** / Family AU141.
Sibs. / (Yu et al. 2002)
8q24.23 / 46,X?,del(8)(q24.23q24.23)mat / 137.10 – 137.99 Mb
D8S272-
Deletion size ~ 192 Kb
One entry with AU002 / AU141/ U02. / - / 1 / ***** / Family AU142.
One sib with deletion and “broader phenotype”. / (Yu et al. 2002)
8q24.23 / 46,X?,del(8)(q24.23q24.23)mat / 137.10 – 137.99 Mb
D8S272-
Deletion size ~ 192 Kb
One entry with AU002 / AU141 / AU142. / - / 2 / ***** / Family U02.
Sibs. Two sibs with deletion but no ASD. / (Yu et al. 2002)
8p?
8q? / 46,XY,del(8)(p?p?),dup(8)(q?q?) / Not further specified.
"Deletion in middle of 8p" / +
- / 1 / *** / (Ritvo et al. 1990)
8p? / 46,XX,dup(8)(p?p?) / Not further specified / + / 1 / **** / (Kielinen et al. 2004)
Chromosome-9

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
9pter –
9p24.1 / 46,XX,t(9;18)(p24.1;?) / Pter – 9.00 Mb
(approximate) / - / 1 / ** / See chromosome 18. / (Telvi et al. 2000)
9p22 / 46,XX,t(9;18)(p22;q21), inv(10)(p11q21) / 14.10 – 19.90 Mb
(approximate) / = / 1 / ** / See chromosome 10 and 18. / (Bugge et al. 2000; Gilling et al. 2003)
9p21 / 46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12) / 19.90 – 33.20 Mb
(approximate), M-Fish
Complex apparently balanced rearrangement / = / 1 / *** / See chromosomes 3,6,10 and 14. / (Lespinasse et al. 2004)
9p11 / 46,X?,inv(9)(p11q12) / 44.20 – 50.60 Mb
(approximate) / = / 1 / **** / Heterochromatin.
(Pers. comm. Havlovicova) / (Havlovicova et al. 2002)
9p11 / 46,,XY,inv(9)(p11q12) / 44.20 – 50.60 Mb
(approximate) / = / 1 / ***** / Heterochromatin. / (Jayakar et al. 1986)
9q12 / 46,XY,t(9;17)(q12;q21) / 59.20 – 67.50 Mb
(approximate) / = / 1 / **** / Heterochromatin.
See chromosome 17. / (Ho and Kalousek 1989)
9q12 / 46,X?,inv(9)(p11q12) / 59.20 – 67.50 Mb
(approximate) / = / 1 / **** / Heterochromatin.
(Pers. comm. Havlovicova) / (Havlovicova et al. 2002)
9q12 / 46,,XY,inv(9)(p11q12) / 59.20 – 67.50 Mb
(approximate) / = / 1 / ***** / (Jayakar et al. 1986)
9q32 / 46,X?,t(9;15)(q32;q22) / 112.00 – 114.80 Mb
(approximate) / = / 1 / ** / See chromosome 15 / (Copeland-Yates et al. 2001)
9p? / 46,XY,del(9)(p?) / Not further specified. / - / 1 / *** / (Ritvo et al. 1990)
Chromosome-10

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
10p15.3 –10p14 / 46,XY,del(10)(p14;15.3)} / 0.10 – 12.30 Mb
ish(GATA3-, cosmid 2189B6+) / - / 1 / ***** / (Verri et al. 2004)
10p14 / 46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12) / 6.70 – 12.30 Mb
(approximate), M-Fish
Complex apparently balanced rearrangement / = / 1 / *** / See chromosomes 3,6,9 and 14. / (Lespinasse et al. 2004)
10p11.2 / 46,X?,inv(10)(p11.2q21.1) / 29.40 – 38.80 Mb
(approximate) / = / 1 / **** / (Pers. comm. Havlovicova) / (Havlovicova et al. 2002)
10p11.2 / 46,XX,t(9;18)(p22;q21.1), inv(10)(p11.2q21.2) / 29.40 - 38.80 Mb
(approximate) / = / 1 / ** / See chromosomes 9 and 18. / (Bugge et al. 2000; Gilling et al. 2003)
10p11.21 / 46,XY,inv(10)(p11.21;q21.2)mat / 34.50 – 38.80 Mb
(approximate) / = / 1 / ***** / Mother no ASD. / (Lauritsen et al. 1999)
10q11.1 / 46,XX,t(X;10)(p11.4;q11.1) / 40.30 – 41.90 Mb
(approximate) / = / 1 / ** / Heterochromatin.
See chromosome X. / (Carlsson et al. 2003)
10q21.1 / 46,X?,inv(10)(p11.2q21.1) / 52.60 – 60.80 Mb
(approximate) / = / 1 / **** / (Pers. comm. Havlovicova) / (Havlovicova et al. 2002)
10q21.2 / 46,XX,t(9;18)(p22;q21.1), inv(10)(p11.2q21.2) / 60.80 – 64.20 Mb
(approximate) / = / 1 / ** / See chromosomes 9 and 18. / (Bugge et al. 2000; Gilling et al. 2003)
10q21.2 / 46,XY,inv(10)(p11.21;q21.2)mat / 60.80 – 64.20 Mb
(approximate) / = / 1 / ***** / Mother no ASD. / (Lauritsen et al. 1999)
10q21.3 / 46,XY,inv(10)(cen;q21.3) / 64.20 – 70.30 Mb
(approximate)
Prox. BP in centromere. / = / 1 / ***** / (Castermans et al. 2003)
10q23.2 - 10q23.32 / 46,XY,del(10)(q23.2;q23.32)mat / 86.80 – 94.10 Mb
(approximate) / - / 1 / **** / Mother and two cousins same del(10) with developmental speech and language delay (no ASD).
(Pers. comm. Schimmenti) / (Schimmenti et al. 2004)
Chromosome-11

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
11q23 –
11qter / 47,XX,+der(22)t(11;22)(q23;q11) / 110.00 – 134.45 Mb
(approximate) / + / 1 / *** / See chromosome 22 / (Tranebjaerg and Kure 1991)
11q23 –
11qter / 46,X_,der(11)t(11;12)(q23;q24.1)mat / 110.00 – 134.45 Mb
(approximate) / - / 2 / * / Siblings.
See chromosome 12. / (Lukusa et al. 2003)
11q24 –
11qter / 46,X?,del(11)(q24) / 121.20 –134.45 Mb
(approximate) / - / 1 / **** / (Lucchese, Takahashi, and Miles 2003)
11q25 / 46,XY,t(7;11)(q31.2;q25) / 130.30 – 134.45 Mb
(approximate) / = / 1 / ***** / See chromosome 7. / (Vincent et al. 2003; Scherer et al. 2003)
11q? / 46,XX,t(5;11)(?;q?) / Not further specified. / = / 1 / *** / See chromosome 5. / (Ritvo et al. 1990)

Chromosome-12

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
12q15 / 46,XY,t(4;12)(q21.3;q15)mat / 66.10 – 70.10 Mb
(approximate) / = / 2 / **** / Monozygotic twins
Mother no ASD.
See chromosome 4. / (Nasr and Roy 2000)
12q15 / 46,XY,t(7;12)(q21;q15) / 66.10 – 70.10 Mb
(approximate) / = / 1 / **** / See chromosome 7. / (Bugge et al. 2000; Lauritsen et al. 1999)
12q24.1– 12qter / 46,X_,der(11)t(11;12)(q23;q24.1)mat / 107.50 – 132.45 Mb
(approximate) / + / 2 / * / Sibs.
See chromosome 11. / (Lukusa et al. 2003)
12q24.3–12qter / 46,X_,der(22)t(12;22)(q24.3;q13.3)mat / 119.30 – 132.45 Mb
(approximate) / + / 2 / ** / Sibs.
See chromosome 22. / (Rodriguez et al. 2003)
12q24.31 / 46,XY,t(1;12)(p36.2;q24.31)mat / 119.30 – 125.40 Mb
(approximate) / = / 1 / * / Mother no ASD.
See chromosome 1. / (Stipoljev and Gjergja 2004)

Chromosome-13

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
13q13.2 / 46,XY,t(5;13)(q12.1;q13.2) / 33.50 – 33.55 Mb
NBEA(spanning BP) / = / 1 / ***** / See chromosome 5 / (Castermans et al. 2003)
13q13.2–13q14.2 / 46,XY,del(13)(q13.2;q14.1) / 33.13 – 43.72 Mb
ish(RP11-37L2+, RP11-218I21-,
RP11-160G19-, D13S291+) / - / 1 / ***** / (Smith et al. 2002; Smith et al. 2003)
13q14 –
13q22 / 46,XY,del(13)(q14q22) / 47.95 – 77.90 Mb
ish(RB1+) / - / 1 / **** / (Steele et al. 2001)
13q21 / 46,XY,t(7;13)(q31.3;q21) / 53.18 – 57.22 Mb
HTR2A*BP*D13S800
YAC925E11, YAC857H4 (spanning BP) / = / 1 / ***** / See chromosome 7. / (Vincent et al. 2000; Cheung et al. 2001; Vincent et al. 2003)
13q21.3 / 46,XY,t(7;13)(q31.3;q21.3), inv(11)(p15.3;p15.5)pat / 70.95 – 71.12 Mb
RP11-360I23 (spanning BP) / = / 1 / *** / Father no ASD.
See chromosome 7. / (Gribble et al. 2005)
13q32.3–
13q33.2 / 46,XY,del(13)(q32.3q33.2) / 98.20 – 105.80 Mb
(approximate) / - / 1 / ** / (Bottani et al. 1991)
13q33.2–
13q34 / 46,XY,del(13)(q33.2;q34) / 103.70 – 114.14 Mb
(approximate) / - / 1 / *** / (Wassink et al. 2004)
13q34 –
13qter / 46,XY.ish der(18) t(13;18)(q34;q23) / 109.10 – 114.14 Mb
(approximate) / + / 1 / ** / Sib same der(18), no ASD.
(Pers. comm. Medne)
See chromosome 18. / (Medne et al. 2003)

Chromosome-14

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
14pter –
14q22 / 47,der(14)t(14;?)(q22;?) / Pter – 50.10 Mb
(approximate) / + / 1 / *** / (Wassink, Piven, and Patil 2001)
14q12 / 46,XY,t(3;6;9;10;14)
(p24;q21;p21;p14;q12) / 24.30 – 32.40 Mb
(approximate), M-Fish
Complex apparently balanced rearrangement / = / 1 / *** / See chromosomes 3,6,9 and 10. / (Lespinasse et al. 2004)
14q12 / 46,XY,t(14;16)(q12;q24.3) / 24.30 – 32.40 Mb
(approximate) / = / 1 / ***** / See chromosome 16. / (Castermans et al. 2003)
14q24 / 46,XY,ins(14;18)(q24;q12.2q21.1) / 67.00 – 78.40 Mb
(approximate) / = / 1 / **** / See chromosome 18. / (Mehta et al. 2000)
14q32.2 / 46,XY,t(14;16)(q32.2;q22) / 95.40 – 100.40 Mb
(approximate) / = / 1 / *** / See chromosome 16. / (Tranebjaerg and Kure 1991; Bugge et al. 2000)
14q32.3–
14qter / 45,XX,der(14)t(14;21)
(q32.3;q11.2) / 100.40 – 106.37 Mb
ish(WCP14+, WCP21+). / - / 1 / **** / See chromosome 21. / (Merritt et al. 2004)
14q32.33 – 14qter / 46,X?,dup(14)(qter) / 103.10 – 106.37 Mb
D14S308++
CGH Array / + / 1 / ** / (Patil et al. 2004)

Chromosome-15

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
15pter –
15q11.2 / 47,XY,+inv dup(15)
(pter>q11.2::q11.2>pter) / Pter – 20.46 Mb
ish(D15Z1++, D15S11-, SNRPN-)
LCR1 / ++ / 1 / ** / (Hou and Wang 1998)
15pter –
15q12 / 47,XX,+inv dup(15)
(pter>q12::q12>pter) / Pter – 23.24 Mb
ish(D15Z1++, D15S11++, SNRPN++, D15S10-, GABRB3-) / ++ / 1 / ** / (Hou and Wang 1998)
15pter –
15q12 / 47,XY,+inv dup(15)
(pter>q12::q12>pter) / Pter – 24.19 Mb
ish(D15Z1++, D15S11++, SNRPN++, D15S10++, GABRB3-) / ++ / 1 / ** / (Hou and Wang 1998)
15pter –
15q22 / 47,XY,+der(15)del(15)(q22) / Pter – 65.30 Mb
(approximate) / + / 1 / *** / (Wassink, Piven, and Patil 2001)
15pter –
15q13.1 / 47,X?,+Inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15Z1++, D15S12++)
LCR3 / ++ / 2 / * / (Cheng et al. 1994)
15pter –
15q13.1 / 47,XY,+Inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15Z1++, D15S11++, GABRB3++)
LCR3 / ++ / 1 / ** / (Hou and Wang 1998)
15pter –
15q13.1 / 47,XY,+der(15)del(15)(q13.1) / Pter – 27.00 Mb
ish(D15S10+, SNRPN+, GABRB3+)
LCR3 / + / 1 / ***** / (Schroer et al. 1998)
15pter –
15q13.1 / 47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(NDN++, SNRPN++, HERC2++)
LCR3 / ++ / 2 / ***** / Maternal origin. / (Filipek et al. 2003)
15pter –
15q13.1 / 47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
LCR3
ish(D15S10++) / ++ / 2 / * / (Buoni et al. 2000)
15pter –
15q13.1 / 47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15Z1++ D15S11++ GABRB3++)
LCR3 / ++ / 1 / **** / (Estecio et al. 2002; Silva et al. 2002)
15pter –
15q13.1 / 47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15Z1?++, D15S11?++, GABRB3?++, SNRPN?++, D15s10?++)
LCR3 / ++ / 6 / ***** / Maternal origin. / (Borgatti et al. 2001)
15pter –
15q13.1 / 47,X?,+inv dup(15)
(pter>q13.1::q13.1>pter)mat / Pter – 27.00 Mb
ish(D15S11++, D15S97++, D15S156++)
LCR3 / ++ / 5 / * / Mother no ASD. / (Webb et al. 1998)
15pter –
15q13.1 / 47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15S10++, SNRPN++)
LCR3 / ++ / 2 / **** / (Simic and Turk 2004)
15pter –
15q13.1 / 47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15S13++, D15S156++,D15S1010-)
LCR3 / ++ / 1 / * / (Maggouta et al. 2003)
15pter –
15q13.1 / 47,XY,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(GABRB ++, D15S24-)
LCR3 / ++ / 1 / ** / Maternal origin. / (Wandstrat et al. 1998)
15pter –
15q13.1 / 47,XY,+der(15)
(pter>q13::q13>cen>q13::q13>pter} / Pter – 27.00 Mb
ish(PCM15++++ WI-9991++++, GABRB3++++,APBA2-)
LCR3
Hexasomy 15 / +++ / 2 / **** / (Mann et al. 2004)
15pter –
15q13.1 / 47,XX,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb

ish(D15S11++)

LCR3 / ++ / 1 / **** / Nieuwe en enige entry. Wordt nog door Wouter geverifieerd + parent of origin
Nb nog in graf verwerken / (Baker et al. 1994)
15pter –
15q13.1 / 47,XY,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb
ish(D15S13++,GABRB3++,
D15S9++,D15S11++,D15S13++)
LCR3 / ++ / 4 / ***** / Maternal origin / (Gillberg et al. 1991; Martinsson et al. 1996)
15pter –
15q13.1 / 47,X_,+inv dup(15)
(pter>q13.1::q13.1>pter) / Pter – 27.00 Mb

ish(D15Z1++, D15S11++, GABRB3++)

LCR3 / ++ / 2 / * / Maternal origin. / (Crolla et al. 1995)
15pter –
15q13.3 / 47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 29.05 Mb
ish(SNRPN++,D15S10++,
GABRB3++, D15S165++,D15S144-)
LCR4 / ++ / 1 / ***** / Maternal origin. / (Schroer et al. 1998)
15pter –
15q13.3 / 47,X?,+inv dup(15)
(pter>q13.3::q13.3>pter) /

Pter – 29.05 Mb

ish(D15S11++, D15S24++, D15S165++)
LCR4 / ++ / 2 / * / (Webb et al. 1998)
15pter –
15q13.3 / 47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 29.05 Mb
ish(GABRB3++, D15S217++, D15S165-)
LCR4 / ++ / 1 / ***** / Maternal origin. / (Wolpert et al. 2000)
15pter –
15q13.3 / 47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
LCR5 / ++ / 5 / * / (Wisniewski et al. 1979)
15pter –
15q13.3 / 47,XY,+inv dup (15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Probes and markers not specified.
LCR5 / ++ / 1 / *** / (Gener et al. 2004)
15pter –
15q13.3 / 47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
ish(307A12++)
LCR5
rev ish enh(15) / ++ / 7 / *** / (Blennow et al. 1995)
15pter –
15q13.3 / 47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Probes and markers not specified.
LCR5 / ++ / 1 / ***** / Maternal origin. / (Kwasnicka et al. 2004)
15pter –
15q13.3 / 47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
BP close to D15S144
LCR5. / ++ / 1 / ** / Maternal origin. / (Wandstrat et al. 1998)
15pter –
15q13.3 / 47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Tetrasomy 15pter-q13
LCR5. / ++ / 1 / ***** / (Konstantareas and Homatidis 1999)
15pter –
15q13.3 / 47,XY,+der(15) (pter>q15::p11>pter) / Pter – 31.39Mb
Trisomy 15pter – q15
LCR5. / + / 1 / ***** / (Konstantareas and Homatidis 1999)
15pter –
15q13.3 / 47,XY,+?inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
ish(D15Z1++,WCP15+)
LCR5 / ++ / 1 / * / (Viersbach et al. 1998)
15pter –
15q13.3 / 47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39 Mb
ish(GABRB3++, D15S165++)
LCR5 / ++ / 2 / ***** / Maternal origin. / (Wolpert et al. 2000)
15pter –
15q13.3 / 47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39 Mb
ish(D15Z1++, GABRB3++, D15S24++)
LCR5 / ++ / 2 / ** / Maternal origin. / (Flejter et al. 1996)
15pter –
15q13.3 / 47,X_,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Tetrasomy 15pter – q13
LCR5 / ++ / 17 / ***** / (Rineer, Finucane, and Simon 1998)
15pter –
15q13.3 / 48,XXY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Tetrasomy 15pter – q13
LCR5 / ++ / 1 / ***** / Klinefelter syndrome. / (Rineer, Finucane, and Simon 1998)
15pter –
15q13.3 / 47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Tetrasomy 15pter – q13
LCR5 / ++ / 1 / ***** / (Hotopf and Bolton 1995)
15pter –
15q13.3 / 47,X?,+der(15)t(4;15)(p16;q13) / Pter – 31.39Mb
LCR5 / + / 1 / **** / See chromosome 4. / (Lucchese, Takahashi, and Miles 2003)
15p13 -
15q13.3 / 47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
ish(D15Z1++,D15S1010++)
LCR5 / ++ / 1 / * / (Grammatico et al. 1994)
15pter –
15q13.3 / 47,X?,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
ish(D15Z1++,D15S1010++)
LCR5 / ++ / 2 / * / (Leana-Cox et al. 1994)
15pter –
15q13.3 / 47,XX,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39Mb
Tetrasomy 15pter – q13
Bp 5 / ++ / 1 / **** / (Cantu et al. 1990)
15pter –
15q13.3 / 47,XY,+inv dup(15)
(pter>q13.3::q13.3>pter) / Pter – 31.39 Mb
LCR5 / ++ / 2 / ***** / (Gillberg et al. 1991)
15pter –
15q13.3 / 47,XY,+inv dup(15)
(pter>q13::q13.3>pter) / Pter – 31.39 Mb
LCR5 / ++ / 1 / **** / (Lucchese, Takahashi, and Miles 2003)
15q11.2–15q13.1 / 46,XY,dup(15)(q11.2q13.1) / 18.94 – 27.00Mb
ish(D15S12++, D15S24+)
LCR1 – LCR3 / + / 2 / *** / Maternal origin / (Repetto et al. 1998)
15q11.2–15q13.1 / 46,X_,del(15)(q11.2q13.1) / 18.94 – 27.00Mb
ish(D15S63-)
LCR1 – LCR3 / - / 2 / ***** / Paternal origin.
Angelman syndrome. / (Steffenburg et al. 1996)
15q11.2–15q13.1 / 46,XY,del(15)(q11.2;q13.1) / 18.94–27.00 Mb
ish(D15S10-)
LCR1 – LCR3 / - / 1 / ***** / Paternal origin.
Angelman syndrome. / (Schroer et al. 1998)
15q11.2–15q13.1 / 46,XY,dup(15)(q11.2;q13.1)mat / 18.94–27.00 Mb
ish(D15S10++, SNRPN++, D15S11++, GABRB3++)
LCR1 – LCR3 / + / 1 / ***** / Mother no ASD / (Schroer et al. 1998)
15q11.2–15q13.1 / 46,XY,del(15)(q112.;q13.1) / 18.94 – 27.00Mb
ish(D15S18-, D15S12-)
LCR1 – LCR3 / - / 1 / *** / Angelman syndrome? / (Magenis et al. 1990; Knoll et al. 1990)
15q11.2–15q13.1 / 46,XY,del(15)(q11.2;q13.1) / 18.94 – 27.00 Mb
ish(SNRPN-)
LCR1 – LCR3 / - / 1 / ***** / Paternal origin. / (Sabry and Farag 1998)
15q11.2–15q13.1 / 46,XY,dup(15)(q11.2q13.1) / 18.94 – 27.00 Mb
ish(D15S541++,D15S217++,
D15S1019+)
LCR1 – LCR3 / + / 1 / ***** / Maternal origin. / (Bolton et al. 2001)
15q11.2–15q13.1 / 47,XY,dup(15)(q11.2q13.1) / 18.94 – 27.00 Mb
LCR1 – LCR3 / + / 1 / ***** / (Rineer, Finucane, and Simon 1998)
15q11.2-15q13.1 / 46,X_dup(15)(q11.2q13.1) / 18.94 – 27.00 Mb
ish(D15S10++, SNRPN++)
LCR1 – LCR3 / + / 1 / ** / Maternal origin. / (Mao and Jalal 2000)
15q11.2–15q13.1 / 46,XY,dup(15)(q11.2q13.1)mat / 18.94 – 27.00 Mb
ish(D15S11++,D15S10++, GABRB3++)
LCR1 – LCR3 / + / 2 / ***** / Maternal half brothers. / (Thomas et al. 2003)
15q11.2–15q13.1 / 46,XY,dup(15)(q11.2q13.1)mat / 18.94 – 27.00 Mb
ish(D15S10++)
LCR1 – LCR3 / + / 1 / ***** / Mother no ASD. / (Keller et al. 2003)
15q11.2–
15q13.3 / 46,XY,dup(15)(q11.2q13.1) / 18.94 – 27.00 Mb
ish(D15S11++,D15S10++, GABRB3++)
LCR1 – LCR3 / + / 1 / ***** / (Thomas et al. 2003)
15q11.2–15q13.1 / 46,XX,dup(15)(q11.2q13.1)mat / 18.94 – 27.00 Mb
ish(D15S11++, SNRPN++,GABRB3++)
LCR1 – LCR3 / 1 / *** / Mother no ASD. / (Hirsch, Heggie, and McConnel 1995)
15q11.2– 15q13.3 / 46,XX,der(15)
(pter>q13::q13>q11::q11>qter) / 18.94 – 31.39Mb
ish(D15S9+++, D15S12+++)
Triplication 15q11.2 – 15q13.3
LCR1 – LCR5 / + / 1 / * / Maternal origin. / (Schinzel et al. 1994)
15q11.2–
15q13.3 / 46,XY,del(15)(q11.2q13.3) / 18.94 – 31.39Mb
Probes not specified.
LCR1 – LCR5 / - / 2 / *** / (Wassink, Piven, and Patil 2001)
15q11.2–
15q13.3 / 46,XY,dup(15)(q11.2q13) / 18.94 – 31.39Mb
LCR1 – LCR5 / + / 2 / ***** / Maternal half sibs. / (Thomas et al. 2003)
15q11.2–
15q13.3 / 46,XX,dup(15)(q11.2q13.3) / 18.94 – 31.39Mb
ish(SNRPN++)
LCR1 – LCR5 / + / 1 / ** / (Akahoshi et al. 2001)
15q11.2–
15q13.3 / 46,X_,dup(15)(q11.2q13.3)mat / 18.94 – 31.39Mb
LCR1 – LCR5 / + / 2 / ***** / Sibs. Mother no ASD. / (Kashork et al. 2002)
15q12 –15q13.1 / 46,XX,del(15)(q12q13.1) / 20.46 – 27.00 Mb
LCR2 – LCR3 / - / 1 / *** / Paternal origin. Angelman syndrome. / (Kerbeshian et al. 1990)
15q11.2–15q13.1 / 46,X_,dup(15)(q11.2q13.1) / 20.46 – 27.00 Mb
ish(D15S542+, D15S541+
D15S543++, D15S217++, D15S1019+)
LCR2 – LCR3 / + / 3 / ***** / 2 sibs.
Maternal origin. / (Bolton et al. 2001)
15q11.2-15q13.1 / 46,XY,dup(15)(q11.2q13.1) / 20.46 – 27.00 Mb
3 alleles for (D15S11,D15S113)
LCR2 – LCR3 / + / 1 / ***** / Mother no ASD. / (Gurrieri et al. 1999)
15q11.2-15q13.1 / 46,XY,dup(15)(q11.2q13.1) / 20.46 – 27.00
ish(D15S11?, D15S24++,GABRB3++, ACTC+)
LCR2 – LCR3 / + / 1 / * / Maternal origin. / (Bundey et al. 1994)
15q11.2-15q13.1 / 46,XX,dup(15)(q11.2q13.1) / 20.46 - 27.00 Mb
ish(D15S122++,GABRB3++,D15S1002++, GABRA5++)
LCR2 – LCR3 / + / 1 / ***** / Paternal origin. / (Smith et al. 2004)
15q11.2-15q13.1 / 46,X_dup(15)(q11.2q13.1)mat / 20.46 - 27.00 Mb
ish(D15S128++, D15S165+).
LCR2 – LCR3 / + / 2 / ***** / Sibs.
Mother no ASD. / (Cook, Jr. et al. 1997)
15q11.2 / 46,XX,dup(15)(q11.2q11.2) / 21.36 - 22.67 Mb
ish(D15S9+, D15S11++, D15S63+) / + / 1 / ** / (Repetto et al. 1998)
15q22 / 46,X?,t(9;15)(q32;q22) / 57.00 – 65.30 Mb
(approximate) / = / 1 / ** / See chromosome 9 / (Copeland-Yates et al. 2001)
15q22-
15q23 / 46,X?,del(15)(q22q23) / 57.00 – 70.40 Mb
(approximate) / - / 1 / ** / (Smith et al. 2003)
15q23-
15q24.1 / 46,XX,del(15)(q22q23) / 68.18 – 72.22 Mb
ish(TLE3+,PML-, D15S160+) / - / 1 / ***** / (Smith et al. 2000)
15q24.2 / 46,XY,t(1;15)(p35.3;q24.2) / 73.10-74.40 Mb
(approximate) / = / 1 / ***** / See chromosome 1 / (Castermans et al. 2003)
15q25.2-15q26.3 / 46,XY,add(15)(p11)dup(15)
(q25.2q26.3) / 80.32 – 100.34 Mb
RP11-94F22*BP*RP11-147K14 / + / 1 / ***** / (Bonati et al. 2005)
15q? / 45,XX,der(15;22)(q10q10) / Not further specified. / = / 1 / ** / See chromosome 22 / (Arrieta et al. 1994)
15q? / 45,XY,der(15;22)(q10;q10) / Not further specified. / = / **** / See chromosome 22 / (Chudley et al. 1998)
15p? / 46,XX,t(15;16)(p?;p13.2) / Not further specified. / = / 1 / ***** / See chromosome 16 / (Martin et al. 2003)

Chromosome-16

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
16pter –
16p13.1 / 46,XY,dup(16)(p13.1>pter) / Pter – 16.70 Mb
(approximate) / + / 1 / **** / (Hebebrand et al. 1994)
16pter –
16p13.3 / 46,XY,t(4;16)(q24;p13.3) / Pter – 6.30 Mb
(approximate) / = / 1 / ** / See chromosome 4. / (Gilling et al. 2003)
16p13.2 / 46,XX,t(15;16)(p?;p13.2) / 6.01 – 7.00 Mb
A2BP1(spanning BP)
160 Kb deletion at A2BP1. / - / 1 / ***** / See chromosome 15. / (Martin et al. 2003)
16p11.2–
16p12 / 46,XY,dup(16)(p11.2p12) / 16.70 – 34.40 Mb
(approximate) / + / 1 / ** / (Carrasco Juan et al. 1997)
16p12.1–
16p12.2 / 46,XY,dup(16)(p12.1p12.2) / 21.10 – 27.60 Mb
(approximate) / + / 1 / * / (Natacci et al. 2002)
16p11.2–
16p12.2 / 46,X_,dup(16)(p11.2p12.2) / 21.35 – 29.61 Mb
RP11-368N21 (spanning prox BP)
RP22-98D10 (spanning dist BP) / + / 2 / **** / (Engelen et al. 2002; Finelli et al. 2004)
16q13 –
16q22.3 / 46,XX,inv dup(16)
(pter>q22.2::q22.2>q13::q22.3>qter) / 55.30 – 73.80 Mb
(approximate) / + / 1 / ***** / (Mariner et al. 1986)
16q13 –
16q22 / 46,XY,del(16)(q13q22) / 55.30 – 73.80 Mb
(approximate) / - / 1 / *** / (Wassink, Piven, and Patil 2001)
16q22 / 46,XY,t(14;16)(q32.2;q22) / 63.90 – 73.80 Mb
(approximate) / = / 1 / *** / See chromosome 14. / (Bugge et al. 2000; Tranebjaerg and Kure 1991)
16q22.3–
16q23.2 / 46,XY,del(16)(q22.3;q23.2) / 71.40 – 80.60 Mb
(approximate) / - / 1 / ** / (Monaghan et al. 1997)
16q24.3–
16qter / 46,XY,t(14;16) (q12;q24.3) / 87.20 – 88.83 Mb
(approximate) / = / 1 / ***** / See chromosome 14. / (Castermans et al. 2003)

Chromosome-17

Band / Karyotype / Cytogenetic Region Of Interest (CROI) and probe references. / Gain(+)
Loss(-)
Bal.(=) / No. of cases / Rating
Pheno -type / Comment / Reference
17pter –
17p13.3 / 46,XY,t(17;19)(p13.3;p11) / Pter – 3.20 Mb
(approximate) / = / 1 / *** / (Anneren et al. 1995)
17p12 –
17p11.2 / 46,XY,dup(17)(p11.2p12) / 10.70 – 22.10 Mb
ish(D17S122++,PMP22++) / + / 1 / ** / (Moog et al. 2004)
17p11.2 / 46,XY,del(17)(p11.2p11.2) / 15.90 –22.10 Mb
(approximate) / - / 1 / * / (de Almeida, Reis, and Martins 1989)
17p11.2 / 46,XX,del(17)(p11.2p11.2) / 15.90 – 22.10 Mb
(approximate) / - / 1 / *** / (Lockwood et al. 1988)
17p11.2 / 46,XY,del(17)(p11.2p11.2) / 15.90 – 22.10 Mb
(approximate) / - / 1 / ***** / (Mariner et al. 1986)
17p11.2 / 46,XY,del(17)(p11.2p11.2) / 15.90 – 22.10 Mb
(approximate) / - / 1 / **** / (Vostanis et al. 1994)
17q21 / 46,XY,t(9;17)(q12;q21)} / 35.60 – 47.50 Mb
(approximate) / = / 1 / **** / See chromosome 9 / (Ho and Kalousek 1989)
17q21.1 / 46,XY,t(17;22)(q21.1;q12.2) / 35.46 – 35.66 Mb
RP11-749I16(spanning BP) / = / 1 / ** / See chromosome 22. / (Gribble et al. 2005)
17q21.3 / 46,XY,
t(5;8;17)(q31.1;q24.1;q21.3) / 38.20 - 47.50 Mb
(approximate) / = / 1 / ***** / See chromosomes 5 and 8. / (Zwaigenbaum, Heshka, and Xu 2004)
17q23 –
17qter / 46,XY,add(17)(q23) / 50.90 – 78.74 Mb
(approximate) / - / 1 / *** / (Wassink, Piven, and Patil 2001)
17? / 46,X?,del(17)(?) / Not further specified / - / 1 / **** / (Kielinen et al. 2004)
Chromosome-18

Cytogenetic abnormalities associated with the autism phenotype, Vorstman JAS, Staal WG ,Hochstenbach PFR, et al. 2005