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

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National Genetics Reference Laboratory (Wessex)
Salisbury District Hospital
Salisbury