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
National Genetics Reference Laboratory
(Wessex) Salisbury District Hospital Salisbury
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