Chr Rea Region Size (Mb) Con Ascertainment Mode No C Ref
1 del p36.33-pter 0.2 F PA Developmental delay and seizures Mat 3 Tonk et al, 2005
1 del p32-pter;dup? 48.5 - PD Maternal age Pat 2 Carr et al, 1988 
1 dup p23.3p34.1     PA Pat 2 Kirchhoff et al, 2005
1 dup p21-p31 31.3 F PD Maternal age Mat 2 Zaslav et al, 1993
1 dup q11-q22 11.4 F L Leukaemia Mat 3 Chan et al, 2002
1 dup q23-q25 15.7 - PA Mild MR and dysmorphism Mat 2 Van Dyke et al, 1988, Family A
1 dup q42.11-q42.12 4.1 - PA Short stature Mat 2 Bortotto et al, 1990
1 del q42.1-q42.3 7.1 P PA Dev delay, ADD Mat 2 Sanford Hanna et al, 2001
2 del p12-p12 6.1 F,M PD Previous +18 Mat 5 Barber et al, 2005a, Family 1 
2 del p12-p12 6.9 F,M PD Maternal age Both 3 Barber et al, 2005a, Family 2
2 del p11.2-p12 7.5 F,M PA Wilms tumour, dev delay Mat 2 Barber et al, 2005a, Family 3
2 dup q11.2-q21.1 from der(8)ins(8;2) 28.1 P PA Unusual facies, language delay Mat 2 Glass et al, 1998
2 del q13q13     PA Mat 2 Kirchhoff et al, 2005
2 del q13-q14.1 3.2-4.3 F MC Miscarriages Mat 2 Barber et al, 2006, Family 2 (Sumption and Barber, 2001)
2 del q14.1q14.2 2.2-2.9 F PA ?PEHO syndrome Pat 3 Barber et al, 2006, Family 1
3 del p25.3-pter 10.1 F PD Maternal age Mat 2 Knight et al, 1993
3 del p25-pter 8.8-10 A PD FH der(8)t(4;8); mild phenotype in daughter
and mother		 Mat 2 Takagishi et al, 2006
(Jervis et al, 2002)
3 del p25-pter 9.1 - PA Speech delay Mat 2 Tazelaar et al, 1991
3 dup q25.3-q26.2 17 F PA Microcephaly; CHD and deafness Both 9 Wilson et al, 2003 
3 dup q25-q25 10.4 - PA Dysmorphic, CHD Both 5 Fryburg et al, 1994
3 dup q28-q29 8.6 P PD Maternal age Pat 3 Millard et al, 1998
4 del p15.2-p16.1 15.9 - PA  Mat 2 Tonk et al, 2003
4 del q12q12 or del(14)(q13q13) due to t(4;14) 10 M PA Genital and retinal abnormalities Pat 2 Cooke et al, 1989
4 dup q31.1-q32.3 18.6 F PA Dev delay, nasal speech Mat 3 Goodman et al, 1997
4 dup q31.22-q33 19.5 - PA Mild MR and dysmorphism Mat 2 Van Dyke et al, 1988, Family B 
4 dup q31.3-q33 10.6 P PA* Trisomy 21 in proband  Mat 3 Maltby et al, 1999
4 del q32-q33 8 P PA Dev delay and dysmorphic features Mat 2 Aladhami et al, 2000
4 del q33-q33 2.7 - PA Dev delay and dysmorphic features Mat 2 Gould et al, 1999, Family 1
4 del q33-q35.1 13.3 - PA Dev delay Mat 3 Curtis et al, 1989
4 del q33-qter 18.6 F PA MCA inc macrocephaly and language delay Mat 2 Herzog et al, 1993
4 del q34-qter and dup(5)(p15.1-pter) from der(4)t(4;5) 13.3 F PA MR, dysmorphic Mat 2 Bezrookove et al, 2000
4 del q35.1-qter 7.5 F,M PA Primary amenorrhoea, ?Mayer-Rokitansky-Kuster-Hauser syndrome Mat 2 Bendavid et al, 2006
4 dup q35-q35 (see also del(18)(q21q21)   M PA Pat 2 Kirchhoff et al, 2005
4 del q35.2-qter and del(22)(q11.2-pter) from der(4)t(4;22)  1.3 - PA CHD, dysmorphism Mat 2 Greenberg et al, 1984
5 del p13.1-p14.2 8.2 M PA Speech delay Both 6 Barber, 2000
5 del p13.3-p14.3 13.6   PA Microcephaly, small Mat 4 Keppen et al, 1992
5 del p13-p15.1 17 - PD Maternal age Mat 4 Walker et al, 1984
5 del p14.1-p14.3 9.4 P PA Peroxisomal disorder Mat 2 Hand et al, 2000
5 del p14-p14 13.8 M PD Maternal age Mat 6 Overhauser et al, 1986
5 del p14-p14 6.4 F PA Dev delay, microcephaly, seizures Patm 2 Johnson et al, 2000
5 del p14-p15.3 20.4 - PA Cri-du-chat Mat 2 Martinez et al, 1993
5 del p15.1-pter 13.6 - PA MCA Mat 2 Kushnick et al, 1984
5 dup p15.1-pter and del(4)(q34-qter) from der(4)t(4;5) 15 F PA MR, dysmorphic Mat 2 Bezrookove et al, 2000
5 del p15.2-pter 9.6 F,M PA Cat cry, microcephaly Mat 2 Gersh et al, 1995, Family 3
5 del p15.31-pter 9.5 F PA Speech delay, dysmorphic Pat 4 Hill et al, 1900
5 del p15.32-pter 9.5 - PA Dev motor, speech delay Mat 4 Baccichetti et al, 1988
5 del p15.32-pter and dup(?) from der(5)t(5;?) 6.8 F PA ?Cri-du-Chat Both 4 Luthardt et al, 1995
5 del p15.3-pter 8.2 F PA Cat cry at birth, low birth weight Pat 4 Cornish et al, 1999
5 del p15.3-pter 9.5 M PA Speech delay, hearing loss, mild MR Both 3 Church et al, 1995, Family I 
5 del p15.3-pter 9.5 M PA Speech delay, mild dev delay Mat 2 Church et al, 1995, Family II 
5 del p15.3-pter 8.7 M PA Speech delay, raspy voice Mat 3 Church et al, 1995, Family III
5 del p15.3-pter 8.7 M PA Speech and dev delay Both 6 Church et al, 1995, Family IV
5 del p15.3-pter 8.1 F,M PA Low birth weight, microcephaly Pat 4 Gersh et al, Family 4
5 dup q15-q21 16.3 F PD Cystic hygroma on ultrasound Pat 3 Li et al, 1998
5 dup q15-q22.1 13.6 - PA Hyperactive, mild MR Mat 2 Stallard et al, 1994
5 dup q35-qter and del(10)(q26.13-qter) and from der(10)t(5;10) 3.4 F PA Dysmorphic Mat 2 Barber et al, 1996, Family 1
6 del p2?5-pter and del(21)(21q1?1-pter) from der(6)t(6;21) - - PA* Phenotype of sibling Mat 4 Borgaonkar et al, 1973
6 dup p23-pter and del(20)(p13-pter) from der(20)t(6;20)  17.4 F PA Dev delay, dysmorphic features   2 Delatycki et al, 1999
6 dup q23.3-q24.2 from der(2)ins(2;6) 8.1 F,M PA TNDM Both 3 Temple et al, 1996
6 dup q24.2-q24.2 2 F PA Transient Neonatal Diabetes Pat 2 Barber, 2000
7 dup p12.1-p13 6.9 F,M PA Short stature, ?Silver-Russell  Mat 2 Joyce et al, 1999
7 dup p12.2-p13 5.5 F PA Failure to thrive Mat 4 Schaefer et al, 1995
7 del p22-pter 5.5 - PA Patient on Intensive Care Unit Mat 3 Mascarello et al, 1991
7 dup q32-q36.1 17.8 - PA Dev delay, behavioural problems Mat 2 Kulharya et al, 1999
8 dup p12-p21.1 6.9 F,B PA Dev delay Mat 4 Moog et al, 2000
8 dup p21.3-p22 or p22-p23.1 9.6 P PA MR, short stature, hypertelorism Mat 3 Dhooge et al, 1994
8 dup p21.3-p23.1 9.6 P PA CHD Mat 3 Fan et al, 2001, Family 1
8 dup p21.3-p23.1 9.6 P PA Speech delay Pat 3 Fan et al, 2001, Family 2
8 dup p22-p22 3.4 F PD Triple screen Both 3 Chan et al, 2003
8 dup p22-p23.1 9.6 F PA Mild MR only Mat 3 Engelen et al, 1995
8 dup p22-pter from der(Y)t(Y;8) 17.8 P MC Miscarriages x 3 Pat 3 Brooks et al, 1998
8 del p23.1/2-pter 6.1 F PD Maternal age  Pat 2 Reddy, 1999
8 dup p23.1-p23.1 6.5 P PA CHD Patm 2 Kennedy et al, 2001
8 dup p23.1-p23.1 6.5 - PA Dev delay Mat 3 Tsai et al, 2002, Family 3
8 dup p23.1-p23.1 6.5 - PA* Dev delay, hypotonia, (PWS) Pat 2 Tsai et al, 2002, Family 4
8 dup p23.1-p23.1 6.5 - PA Dysmorphic Pat 2 Tsai et al, 2002, Family 1
8 dup p23.1-p23.1 6.5 - PA MCA Mat 2 Tsai et al, 2002, Family 7
8 dup p23.1-p23.1 6.5 - PA Autistic behaviour Mat 2 Tsai et al, 2002, Family 8
8 dup p23.1-p23.3 6.1 F I Oligoasthenospermia Mat 3 Engelen et al, 2000
8 del p23.1-pter) 6.2 F PA Mental slowness, behaviour, seizures Pat 3 Pettenati et al, 1992
8 dup p23.2-p23.2 2.5 F PA Short stature Mat 2 Harada et al, 2002, Family 2 
8 dup p23.2-p23.2 2.5 F PA Dysmorphic features Pat 2 Harada et al, 2002, Family 3
8 dup p23.2-p23.2 2.5 F PA Dev delay, inguinal testis Mat 2 Harada et al, 2002, Family 4
8 del q24.13-q24.22 4.2 P,F PD Triple screen Mat 2 Batanian, 2001
9 dup p12-p21.3 from ins(5;9) 21 P,F PA*Phenotype of daughter DN 1 Stumm et al, 2002
9 del p21.2-p22.1 7.6 - PD Maternal age Both 3 Pelly and Barnes, 1992
9 dup p22-p24 11.4 F PA Short, low IQ, dysmorphic Pat 2 Haddad et al, 1996
9 del q31.2-q32 3.2 - PA Dev delay, FTT, unusual appearance Matm 2 Magenis et al, 1989
10 dup p13-p14 5.3 F PD Low serum screen Mat 3 Saxe et al, 2003
10 dup p13-p15 4 F PA Dev delay especially speech Both 6 Voullaire et al, 2000
10 dup p14-p15 from der(9)ins(9;10) 15 F,M PA MCA Pat 3 Stone et al, 1996
10 dup q11.1q21.1   H,G PA Mat 2 Kirchhoff et al, 2005
10 del q11.2q21.2 13.3 P MC Miscarriages DN 1 Davis et al, 1999
10 del q26.13-qter and dup(5)(q35-qter) from der(10)t(5;10)  6.6 F PA Dysmorphic Mat 2 Barber et al, Family 1
11 del p12-p12 6.1 - PD Maternal age Mat 3 Barber et al, 1991
11 dup q13.5-q21 or q21-q23.1 13.8 F PD Maternal age Mat 2 Witt et al, 1994
11 del q14.3-q14.3 3.6 - PA Dev delay Pat 5 Li et al, 2002
11 del q24.2-qter 9.6 - PA Dev delay Mat 2 Neavel et al, 1994
11 del q25-qter and del(15)(q11-qter) from der(11)t(11;15) - - I Infertility Pat 2 Guichaoua et al, 1992
11 del q25-qter and del(22)(22q11-pter) from der(11)t(11;22) - - PA Unusual facies, physical & mental retardation Mat 4 Fu et al, 1976
12 dup p11.2-p12.3 11 F,A PA MR and mild facial features Pat 2 Liang et al, 2006
12 dup q21.32-q22 6.2-7.9 F,H PD Nuchal risk 1 in 259 Mat 2 Barber et al, 2007
13 dup q13-q14.3 from ins(20;13) 11.6 B PA* Phenotype of sibling DN 1 Rivera et al, 1981
13 del q14.1-q21.3 19.9 B PA Leukocoria Mat 2 Fukushima et al, 1987
13 del q14-q14 10 M PA Retinoblastoma Mat 2 Cowell et al, 1988
13 dup q14-q21 18.3 F PD Maternal hyposomia Mat 2 Liehr et al, 2002
13 del q21-q21 16 - MC Miscarriages Mat 2 Couturier et al, 1985
13 dup q21.31-q31.1 21 A PA Neonatal feeding problems, dev delay Mat 6 Mathijssen et al, 2005
14 del q13q13 or del(4)(q12q12) from t(4;14) 10 M PA Genital and retinal abnormalities Pat 2 Cooke et al, 1989
14 dup q13-q22 26.1 P PA Dev delay Mat 3 Pot et al, 1996
14 dup q24.3-q31 9.8 F PA Dev delay Pat 2 Robin et al, 1997
14 del q31-q31 8.2 M PA Dev delay Both 4 Byth et al, 1995
15 dup q11.2-q13 4 M PA Dev delay, hypogonadism Mat* 6 Bolton et al, 2001, Family 2