Appendix 2 Group 2: unaffected parents with the same unbalanced chromosome abnormality as their affected children

RegionSizeCon Ascertainment ModeCRef
Entries in italics are abstracts only. Con, confirmed with FISH and/or CGH (F); chromosome paint only (P) or molecular analysis (M); 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; Mat* paternal origin in normal parent; Both, maternal and paternal transmission; m, mosaic.
del
    5p15.2-pter9.6F,MPA Cat cry, microcephalyMat2Family 322
    5p15.3-pter8.1F,MPA Low birth weight, microcephalyPat4Family 422
    5p14.1-p14.39.4PPA Peroxisomal disorderMat210
    5p14-p146.4FPA Dev delay, microcephaly, seizuresPatm223
    7p22-pter5.5PA Patient on Intensive Care UnitMat324
    11q14.3-q14.33.6PA Dev delayPat525
    13q14-q1410.0MPA RetinoblastomaMat226
Av 7.5
dup
    1q11-q2211.4FL LeukaemiaMat327
    1q42.11-q42.124.1PA Short statureMat228
    3 q25-q25 10.4 PA Dysmorphic, CHD Both 5 29
    4q31.3-q3310.6PPA* Trisomy 21 in probandMat330
    5q15-q2116.3FPD Cystic hygroma on ultrasoundPat331
    6q24.2-q24.22.0FPA Transient Neonatal DiabetesPat221
    8p23.2-p23.22.5FPA Short statureMat2Family 232
    8p23.2-p23.22.5FPA Dysmorphic featuresPat2Family 332
    8p23.2-p23.22.5FPA Dev delay, inguinal testisMat2Family 432
    8p23.1-p23.16.5PA DysmorphicPat2Family 133
    8p23.1-p23.16.5PA MCAMat2Family 733
    8p23.1-p23.16.5PA Autistic behaviourMat2Family 833
    14q24.3-q319.8FPA Dev delayPat234
    15q11-q134.0MPA Dev delay, ?fragile XMat3Family 135
    15 q11-q12 4.0 F PA Dev delay Mat 2 36
    15q11-q134.0MPA AutismMat*337
    15q11-q134.0MPA Dev delayMat*238
    15q11-q134.0PA AutismMat*239
    16q12.1-q12.15.1FPA AutismMat240
Av 6.1
der
    der(2)dup 6q23.3-q24.28.1F,MPA TNDMBoth341
    ins(2;6)
    der(11)del 11q25-qterI InfertilityPat242
    t(11;15)del 15q11-pter
    der(11)del 11q25-qterPA Unusual facies, physical & mental retardationMat443
    t(11;22)del 22q11-pter
    der(21)del 19p13-pterPA* Down’s syndrome in one of twinsMat344
    t(19;21)del 21q21.1-pter
Totals3019/30PA 25/30; PA* 2/30; PD 1/30; I 1/30; L 1/30Mat 16/30; 
 >mat* 3/30; 
 >pat 9/30; 
 >both 2/3078 2 Abstract only