s

 

Chr Region  Con Ascertainment Mode No C Reference

4

p16.1-p16.1

F,M,A

PA Microtia

Both

10

Balikova et al, 2008

8

p23.1

M

PD Maternal age

Both

3

Barber et al, 2005, Family 2

8

p23.1

M,F

MC Miscarriages

Mat

6

Hollox et al, 2003, Family 1
(Barber et al, 1998a, Family 1)                

8

p23.1

P

PD Maternal age

Pat

2

O'Malley and Storto, 1999

8

p23.1

F

PD Maternal age

Pat

3

Barber et al, 1998a, Family 2

8

p23.1

-

PD Maternal age

Both

4

Barber et al, 1998a, Family 4

8

p23.1

-

PD SIR

Pat

2

Williams et al, 1996, Case 1

8

p23.1

-

PD

Pat

2

Krasikov et al, 1993, Family 1

8

p23.1

-

PD

Pat

2

Krasikov et al, 1993, Family 2

8

p23.1

-

PD

Mat

2

Krasikov et al, 1993, Family 3

8

p23.1

M,F

PA Short stature

Both

3

Hollox et al, 2003, Family 2

(Barber et al, 1998a, Family 5)               

8

p23.1

P

PA Dev delay: ADHD, mild dysmorp,hism

Both

4

Begleiter et al, 2000

8

p23.1

F,P

PA Mild dysmorphism

Mat

3

Gibbons et al, 1999

9

p+

-

PA Protruding tongue

Mat

2

Spedicato et al, 1985

9

p+

-

PA MCA

Mat

6

Sutherland et al, 1981, Family 2

9

p11.2-p13.1 (dup)

F

PD Maternal age

Mat

2

Di Giacomo et al, 2004

9

p11.2-p13.1 (dup)

F

PD Maternal age

Mat

3

Di Giacomo et al, 2004

9

p11.2-p13.1 (dup)

F

Reproductive failure

Pat

2

Di Giacomo et al, 2004

9

p12

F

PD

Both

4

Lecce et al, 2006, Case 2

9

p12

F

PD

Both

4

Lecce et al, 2006, Case 2

9

p12

F

PD

Pat

2

Lecce et al, 2006,Case 3

9

p12

-

PD Previous NTD

Both

4

Webb et al, 1989, Family 1

9

p12

-

PD Previous NTD

Mat

2

Webb et al, 1989, Family 2

9

p12

-

PD Previous NTD

Mat

3

Webb et al, 1989, Family 3

9

p11.2-p12

-

PD Previous +21

Pat

2

Archidiacono et al, 1984, Family 1

9

p11.2-p12

-

PD Maternal age

Mat

5

Archidiacono et al, 1984, Family 2

9

p11.2-p12

-

NS Newborn survey

Mat

2

Buckton et al, 1980

9

q12/qh

F

PD Maternal age

Pat

2

Park et al, 1998

9

q12/qh

-

PD Maternal age

Mat

2

Knight et al, 1995

9

q12/qh

-

MC Miscarriages

Pat

2

Roland et al, 1990, Family 1

9

q12/qh

-

PD Maternal age

Pat

2

Roland et al, 1990, Family 2

9

q12/qh

-

PA* Trisomy 21 in sibling

Mat

3

Docherty and Hulten, 1985

9

q13-q21 (q12/qh)

-

PA Hypoplastic lungs and hydrops

Mat

2

Jalal et al, 1990a

9

q13-q21.12 (del)

-

PA Global developmental delay

Mat

2

Willatt et al, 2006, Family 2

9

q13-q21.12 (del)

-

PA Learning and behavioural problems

Mat

2

Willatt et al, 2006, Family 3

9

q13-q21.12 (del)

-

PA Learning difficulties and small genitalia

Pat

2

Willatt et al, 2006, Family 1

9

q21 (dup)

F

PD

Pat

2

Mevatee et al, 2005

15

q11.2-q13

M

PD Serum increased risk

Mat

2

Browne et al, 1997, Family 16

15

q11.2-q13

M

PD Serum increased risk

Mat

2

Browne et al, 1997, Family 17

15

q11.2-q13

M

PD Maternal age

Pat

3

Browne et al, 1997, Family 18

15

q11.2-q13

M

PD Raised AFP

Both

3

Browne et al, 1997, Family 19

15

q11.2-q13

M

PD Serum increased risk

Pat

3

Browne et al, 1997, Family 20

15

q11.2-q13

P

PD Maternal age

Pat

2

Jalal et al, 1994

15

q11.2-q13

M

PA ?FX Dev delay, learning difficulties

Both

3

Browne et al, 1997, Family 5

15

q11.2-q13

M

PA DD Communication difficulties

Both

3

Browne et al, 1997, Family 6

15

q11.2-q13

M

PA ?FX Language disorder, macrocephaly

Pat

2

Browne et al, 1997, Family 7

15

q11.2-q13

M

PA ?FX Communication problems

Pat

2

Browne et al, 1997, Family 8

15

q11.2-q13

M

PA SS; Mild dev delay

Mat

3

Browne et al, 1997, Family 9

15

q11.2-q13

M

PA CHD; VSD, pulmonary stenosis, hypoplastic toes

Mat

2

Browne et al, 1997, Family 10

15

q11.2-q13

M

PA ?Beckwith-Wiedemann

Pat

2

Browne et al, 1997, Family 11

15

q11.2-q13

M

PA IUGR, antimongoloid slant, epicanthic folds ?+21

Pat

2

Browne et al, 1997, Family 12

15

q11.2-q13

M

PA FTT Sickly child, poor growth

Mat

2

Browne et al, 1997, Family 13

15

q11.2-q12

-

PA Obesity

Mat

2

Shohat et al, 1990

15

q11.2

F

SB Pregnancy loss

Mat

3

Fantes et al, 2002, Family A

15

q11.2

F

PD

Mat

2

Fantes et al, 2002, Family C

15

q11.2

F

PD

Pat

2

Fantes et al, 2002, Family D

15

q11.2

F

PD

Mat

2

Fantes et al, 2002, Family E

15

q11.2

F

PA Autism

Pat

2

Fantes et al, 2002, Family F

15

q11.2

F

PA Dev delay, mod MR

Mat

2

Fantes et al, 2002, Family G

15

q11.2

F

PA Autism and mild dysmorphism

Mat

2

Fantes et al, 2002, Family H

15

q11.2

F

PA Dev delay, mild dysmorphic features, inguinal hernia, talipes

Both

5

Barber et al, 1998b, Family 1

15

q11.2

F

PA Dev delay, gynaecomastia

Mat

2

Barber et al, 1998b, Family 2

15

q12-q13

-

PA Hydrops (non-immune)

Mat

3

Ludowese et al, 1991, Family A

15

q12-q13

-

PA Skeletal abnormalities

Mat

4

Ludowese et al, 1991, Family E

15

q11.2

-

PA Hypotonia; ?PWS

Pat

2

Hoo et al, 1990

15

q11-q13

-

PA Congenital abnormalities

Pat

2

Brookwell and Veleba, 1987

15

q11-q12

-

PA Short stature

Pat

3

Mignon et al, 1997

16

p12+

-

PA ?Fragile X syndrome

Pat

2

Millard et al, 1998

16

p11.2

F

PD Previous 16p+

Mat

3

Lopez-Pajares et al, 2006

16

p11.2

F

MC Miscarriages

Mat

2

Barber et al, 1999, Cases 1 and 2

16

p11.2

-

PA Cleft palate

Both

3

Hasegawa et al, 1992

16

p11.2

-

PA Macrocephaly and hypospadias

Both

3

Jalal et al, 1990b, Case 1

16

p11.2

-

PA MCA

Mat

2

Jalal et al, 1990b, Case 2

16

p11.2

-

PA Dev delay, dysmorphism; MD Myelodysplasia

Both

8

Clark et al, 1988

(Thompson and Roberts, 1987, Case 3)

16

p11

-

PD Maternal age

Mat

4

Croci et al, 1991

16

p11

-

MC Miscarriages and stillbirth

Mat

2

Bogart et al, 1991, Family 1

16

p11

-

PD Not recorded

Pat

2

Bogart et al, 1991, Family 2

16

p11

-

PD Maternal age

Mat

2

Thompson et al, 1990

16

p11

-

PD Parental anxiety

Mat

2

Bryke et al, 1990

16

p11

-

PD FH NTD

Pat

2

Thompson and Roberts, 1987, Case 1

16

p11

-

PD Maternal age

Pat

2

Thompson and Roberts, 1987, Case 2

 

Abbreviations:
Chr - chromosome
Con - confirmed with FISH (F), chromosome paint (P) or molecular analysis M)
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