Chr |
Rea |
Region |
Size |
Con |
Ascertainment |
Mode |
No C |
Ref |
1 |
dup |
p36.33-p36.22 (and del subtel) |
9.9 |
F |
PA Dev delay and seizures at age 15 |
Mat |
3 |
Tonk et al, 2005 |
1 |
dup |
p34.1p34.2 |
3.4 |
A |
PA Hypotonia and dev delay |
Pat |
2 |
Bisgaard et al, 2007, Family 2 |
1 |
del |
p31.3-p32.1 |
5.5 |
A |
PA Trigonocephaly |
Mat |
2 |
Bisgaard et al, 2007, Family 1 |
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 |
q31.1-q32.3 |
13.9 |
F |
MC Miscarriages |
Mat |
2 |
Mrasek et al, 2008 |
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, 2005, Family 1 |
2 |
del |
p12-p12 |
6.9 |
F,M |
PD Maternal age |
Both |
3 |
Barber et al, 2005, Family 2 |
2 |
del |
p11.2-p12 |
7.5 |
F,M |
PA Wilms tumour, dev delay |
Mat |
2 |
Barber et al, 2005, 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 |
q13-q13 |
1.6 |
M |
PA Failure to thrive |
Mat |
3 |
Bisgaard et al, 2007 Family 3 |
2 |
del |
q13-q14.1 |
6 |
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 |
9.1 |
F |
I Infertility |
Pat |
2 |
Sklower-Brooks et al, 2002 |
3 |
del |
p25-pter |
9.1 |
F |
PA Dysmorphic features |
Mat |
2 |
Sklower-Brooks et al, 2002 |
3 |
del |
p25-pter |
8.8 |
A |
PA FH der(8)t(4;8) |
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 |
del |
p11.2-p12.3 |
10 |
A |
PA Learning difficulties |
Pat |
2 |
Willatt et al, 2008 |
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 |
p15.33-p16.3 |
8 |
F |
PA Dev delay |
Mat |
2 |
Basinko et al, 2008 |
4 |
dup |
p16.1p16.1 |
3.3 |
F |
PD Add(4) in amniotic fluid |
Pat |
2 |
Rodriguez et al, 2007 |
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 |
- |
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 Case 7 |
4 |
del |
q34.1-q34.3 |
9.4 |
F,A |
MC Miscarriages |
N |
1 |
Bateman et al, 2008 |
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 |
q35.1-q35.2 (and del(18)(q21.1q21.1)) |
2.7 |
A |
PA pulmorary atresia |
Pat, Gpat |
3 |
Bisgaard et al, 2007, Family 6 |
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 Case 7 |
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 |
q21q22.1 |
5 to 10 |
F |
PA IUGR, MR, dysmorphism |
Mat |
2 |
Pazooki et al, 2007 |
6 |
del |
q22.31 - q23.1 |
9.9 |
A |
MC Miscarriages |
N |
1 |
Hansson et al, 2007 |
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 |
p22.3-pter |
3.5 |
A |
PD Anhydramnios |
Pat |
2 |
Willatt et al, 2008 |
7 |
del |
p22-pter |
5.5 |
- |
PA Patient on Intensive Care Unit |
Mat |
3 |
Mascarello et al, 1991 |
7 |
dup |
p12.2-p13 |
5.5 |
F |
PA Failure to thrive |
Mat |
4 |
Schaefer et al, 1995 |
7 |
dup |
p12.1-p13 |
6.9 |
F,M |
PA Short stature, ?Silver-Russell |
Mat |
2 |
Joyce et al, 1999 |
7 |
dup |
p11.2-p12 |
|
F |
PA Mild cognitive difficulties |
Mat, Gmat |
3 |
Leach et al, 2007 |
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 |
3.8 |
P |
PA Adrenal insufficiency and TOF |
Mat |
2 |
Barber et al, 2008 Family 1 |
8 |
dup |
p23.1-p23.1 |
3.8 |
P |
PA Dysmorphism |
Mat |
2 |
Barber et al, 2008 Family 2 |
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 |
dup |
p23.1-p23.2 |
4.6 |
F,A |
PA Learning difficulties, pulmonary stenosis |
Mat |
3 |
Barber et al, 2008 Case 4 |
8 |
dup |
p23.1-p23.2 |
6.8 |
F,A |
PA Speech delay and autism |
Mat |
2 |
Glancy et al, 2009 |
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 et al, 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 |
del |
q11.2q11.23 |
6.2 |
A |
PA Bohring Opitz syndrome |
Both |
7 |
Bisgaard et al, 2007, Family 2 |
10 |
del |
q11.2q21.2 |
13.3 |
P |
MC Miscarriages |
DN |
1 |
Davis et al, 1999 |
10 |
del |
q22.3-q23.31 |
7.2 |
A |
PA Autism |
Both |
11 |
Balciuniene et al, 2007, Family 1 |
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, 1996 Family 1 |
11 |
dup |
p14.3-p15.1 |
3 to 8 |
F |
PA MR, dysmorphism |
Mat |
2 |
Wyandt et al, 2006 |
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 |
q14.3-q22.1 |
8.5 |
A,F |
PD Raised serum screen risk |
Both |
3 |
Goumy et al, 2008 |
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 |
MR and mild facial features |
Pat |
2 |
Liang et al, 2006 |
12 |
dup |
q21.32-q22 |
6.2-7.9 |
F,M |
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 |
del |
q21.1-q21.31 |
10.7 |
A,F |
MC Miscarriages |
N |
1 |
Roos et al, 2008 |
13 |
dup |
q21.1-q21.32 |
11.2 |
F,A |
PD Autistic spectrum disorder |
Both |
3 |
Daniel et al, 2007 |
13 |
dup |
q21.1-q21.33 |
12 |
F |
PD Phenotype of triplicated proband |
Pat |
4 |
Lopez-Exposito et al, 2008 |
13 |
del |
q21.1-q21.33 |
14.5 |
A,M |
PD Polyhydramnios |
Both |
3 |
Filges et al, 2009 |
13 |
dup |
q21.31-q31.1 |
21 |
F,A |
PA Feeding problems and dev delay |
Mat |
6 |
Mathijssen et al, 2005 |
13 |
dup |
q31.1q31.1 |
2.9-3.2 |
M |
PA Phenotype of index case |
|
6 |
Bisgaard et al, 2007, Family 5 |
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 |
15 |
dup |
q11.2-q13 |
4 |
M |
PA Severe MR |
Mat* |
3 |
Bolton et al, 2001, Family 3 |
15 |
dup |
q11.2-q13 |
4 |
M |
PA Dev delay |
Mat* |
5 |
Bolton et al, 2001, Family 4 |
15 |
dup |
q11q13 |
4 |
M |
PA Autism |
Mat |
3 |
Boyar et al, 2001 |
15 |
del |
q11-q12 |
2 |
M |
PA MR |
Mat |
2 |
Michaelis et al, 1995 |
15 |
dup |
q11-q12 |
4 |
F |
PA Dev delay |
Mat |
2 |
Hirsch et al, 1995 |
15 |
dup |
q11-q13 |
4 |
F+M |
PA Dev delay |
Mat |
6 |
Thomas et al, 2003, Family A |
15 |
dup |
q11-q13 |
4 |
M |
PA Dev delay, ?fragile X |
Mat |
3 |
Bolton et al, 2001, Family 1 |
15 |
dup |
q11-q13 |
4 |
M |
PA Autism |
Mat* |
3 |
Cook et al, 1997 |
15 |
dup |
q11-q13 |
4 |
M |
PA Dev delay |
Mat* |
2 |
Gurrieri et al, 1999 |
15 |
dup |
q11-q13 |
4 |
- |
PA Autism |
Mat* |
2 |
Schroer et al, 1998 |
16 |
dup |
q11.2-q12.1 |
5.1 |
F |
PA Speech delay |
Pat |
4 |
Barber et al, Family 2 |
16 |
dup |
q11.2-q13.1 from ins(16;16)der(16) |
11.9 |
F |
PA Dev delay |
Matm |
3 |
Barber et al, Family 1 |
16 |
dup |
q12.1-q12.1 |
5.1 |
F |
PA Autism |
Mat |
2 |
Verma et al, 1997 |
16 |
del |
q13q22 |
7 |
F |
PD Maternal age |
Mat |
3 |
Hand et al, 2000 |
16 |
del |
q21-q21 |
7 |
M |
PD Maternal age |
Pat |
3 |
Witt et al, 1988 |
18 |
dup |
cen-pter |
21.5 |
F |
PA Dysmorphic, moderate MR |
Matm |
2 |
Moog et al, 1994 |
18 |
del |
p (pre-banding) |
20.1 |
- |
PA Failure to thrive, ptosis |
Matm |
3 |
Uchida et al, 1965 |
18 |
del |
p11.21-pter |
12.9 |
- |
PA MR; short stature |
Mat |
2 |
Say et al, 1994 |
18 |
del |
p11.23-pter |
7.2 |
P |
PA MCA |
Mat |
3 |
Tsukahara et al, 2001 |
18 |
del |
p11.2-pter |
14.3 |
P |
PD Abnormal ultrasound |
Mat |
2 |
Tonk and Krishna, 1997 |
18 |
del |
p11.2-pter |
14.3 |
F |
PA MR, short stature |
Mat |
2 |
Velagaleti et al, 1996 |
18 |
dup |
p11.2-pter |
14.3 |
F |
PA Dev delay |
Mat |
3 |
Maranda et al, 2006 |
18 |
dup |
p11.2-pter |
22 |
M |
PD Raised seurm AFP |
Mat |
2 |
Wolff et al, 1991 |
18 |
del |
p11.31-pter |
4.4 |
- |
PD Serum AFP |
Pat |
2 |
Millard et al, 1998 |
18 |
del |
p11.3-pter |
5.7 |
F, P |
PD Previous son with MR |
Mat |
2 |
Rigola et al, 2001 |
18 |
dup |
q11.2q12.2 from ins(18;18) |
10 |
F |
PD FH Down syndrome |
DN |
1 |
Starke et al, 2001 |
18 |
del |
q21.1-q21.1 (and dup(4)(q35.1q35.2)) |
2.1 |
M,A |
PA Pulmorary atresia |
Pat, Gpat |
3 |
Bisgaard et al, 2007, Family 6 |
18 |
dup |
q21.31-q22.2 |
12 |
A |
PA Mild MR and minor dysmorphism |
Matm |
4 |
Ceccarini et al, 2007 |
18 |
del |
q2?1-qter |
30.8 |
- |
PA MCA |
Mat |
5 |
Subrt and Pokorny, 1970 |
18 |
del |
q22.3-qter |
8.6 |
- |
PA |
Mat |
2 |
Miller et al, 1990 |
18 |
del |
q23-qter |
5.7 |
M |
PA Dysmorphic |
Mat |
2 |
Strathdee et al, 1997 |
19 |
del |
p13-pter and del(21)(q21.1-pter) from der(21)t(19;21) |
- |
- |
PA* Down syndrome in one of twins |
Mat |
3 |
Pfeiffer et al, 1977 |
20 |
del |
p11.2-p12.2 |
5.8 |
- |
PA Dysmorphic |
Mat |
2 |
Anad et al, 1990 |
20 |
del |
p13-pter and dup(6)(p23-pter) from der(20)t(6;20) |
4.4 |
F |
PA Dev delay, dysmorphic features |
Pat |
2 |
Delatycki et al, 1999 |
21 |
del |
q11-pter and del(6)(p2?5-pter) from der(6)t(6;21) |
- |
- |
PA* Phenotype of sibling |
Mat |
4 |
Borgaonkar et al, 1973 |
21 |
del |
q11-q21.3 |
17.3 |
M |
PA Dislocated hips |
Mat |
2 |
Roland et al, 1992 |
21 |
del |
q21.1-pter and del(19)(p13-pter) from der(21)t(19;21) |
- |
- |
PA* Down syndrome in one of twins |
Mat |
3 |
Pfeiffer et al, 1977 |
21 |
del |
q21.2-pter from der(22)t(21;22) |
21.6 |
F |
PA* Sibling with Down syndrome |
Mat |
5 |
Aviv et al, 1997 |
21 |
dup |
q22-qter |
18.3 |
F |
PA Unusual appearance |
Mat |
3 |
Barber, 2000 |
22 |
del |
22q11.21-pter from der(9)t(9;22) (9q subtel intact) |
4.1 |
F |
PD Maternal age |
Mat |
4 |
Barber, 2000 |
22 |
del |
q11.2-pter and del(4)(35.2-qter) from der(4)t(4;22) |
12.4 |
|
PA CHD, dysmorphism |
Mat |
2 |
Greenberg et al, 1984 |
22 |
del |
q11.2-q11.2 |
2 |
M |
PA Cardiac failure |
Mat |
4 |
Wilson et al, 1991 |
22 |
del |
q13.3-q13.3 from ins(7;22) |
- |
F |
PA Mitral valve prolapse |
Mat |
2 |
Slavotinek et al, 1997 |
Abbreviations:
Chr - chromosome
Con - confirmed with FISH (F), chromosome paint (P) molecular analysis (M)
HR-CGH (H) Array (A)
No C - number of carriers in family
PD - prenatal diagnosis
PA - phenotypic abnormality
PA* - phenotypic abnormality due to an identified cause.
MC - miscarriage
MCA - multiple congenital abnormality
I - infertility
Mat - maternal
Pat - paternal
National Genetics Reference Laboratory
(Wessex) Salisbury District Hospital Salisbury
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