Chr Region  Con Ascertainment Mode No C Reference
8 p23.1 M PD Maternal age Both 3 Barber et al, 2005b, 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