Appendix 1 Group 1: phenotypically unaffected parents with the same unbalanced chromosome abnormality as their unaffected children

Entries in italics are abstracts only. Con, confirmed with FISH and/or CGH (F); chromosome paint (P); molecular (M) or biochemical analysis (B); C, number of carriers in family; PD, prenatal diagnosis; PA, phenotypic abnormality; PA*, phenotypic abnormality due to another identified cause; MC, miscarriage; I, infertility; Mat, maternal; Pat, paternal; Both, maternal and paternal transmission; N, Not transmitted from an unbalanced parent; m, mosaic.
    2p12-p126.1F,MPD Previous +18Mat5Family 11
    2p12-p126.9F,MPD Maternal ageBoth3Family 21
    2q13-q14.16.0FMC MiscarriagesMat22
    3p25.3-pter10.1FPD Maternal ageMat23
    5p14-p1413.8MPD Maternal ageMat64
    8p23.1/2-pter6.1FPD Maternal agePat25
    8q24.13q24.224.2P,FPD Triple screenMat26
    9 p21.2-p22.1 7.6 PD Maternal age Both 3 7
    10 q11.2q21.2 13.3 P MC Miscarriages N 1 158
    11p126.1PD Maternal ageMat38
    13q21-q2116.0MC MiscarriagesMat29
    16q13q227.0FPD Maternal ageMat310
    16 q21-q21 7.0 M PD Maternal age Pat 3 11
    18 p11.31-pter 4.4 PD Serum AFP Pat 2 12
Av 8.2
    1p21-p3131.3FPD Maternal ageMat213
    3 q28-q29 8.6 P PD Maternal age Pat 3 12
    8p23.1-p23.36.1FI OligoasthenospermiaMat314
    8 p22 3.4 F PD Triple screen Both 3 15
    10 p13-p14 5.3 F PD Low serum screen Mat 3 16
    13q14-q2118.3FPD Maternal hyposomiaMat217
    18p11.2-pter22.0MPD Raised seurm AFPMat218
Av 13.6
    der(5)dup(9)(p12-p21.3)21.0P,FPA*Phenotype of daughterN1159
    der(20)dup(13)(q13-q14.3)11.6BPA* Phenotype of siblingN1160
    der(18)dup(18)(q11.2q12.2)10.0FPD FH Down’s syndromeN1161
    der(1) del 1p32-pter dup? 48.5 PD Maternal age Pat 2 19
    der(6)del ?6p25-pter & 
 >?21q11-pterPA* Phenotype of siblingMat420
    der(9) del 22q11.21-pter4.1FPD Maternal ageMat421
    t(9;22)(9q subtel intact)0.0
Totals27 families21/27PD 20/27; MC 3/27; PA* 3/27; I 1/23Mat 15/23; 
 >pat 5/23; 
 >both 3/2370 8 Abstract only