Appendix 3 Group 3: affected parents with the same unbalanced chromosome abnormality as their affected children

Entries in italics are abstracts only. Abbreviations: Con, confirmed with FISH and/or CGH (F); chromosome paint only (P) molecular analysis (M) or biochemistry (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; m, mosaic.
    1q42.1-q42.37.1PPA Dev delay, ADDMat245
    2p11.2-p127.5F,MPA Wilm,s tumour, dev delayMat2Family 31
    3p25-pter9.1PA Speech delayMat246
    4 q33-qter 18.6 F PA MCA inc macrocephaly and language delay Mat 2 48
    4 q33-q35.113.3PA Dev delayMat349
    4 q33-q33 2.7 PA Dev delay and dysmorphic features Mat 2 Family 1 50
    4 q32-q33 8.0 PA Dev delay and dysmorphic features Mat 2 Family 2 50
    5 p15.32-pter9.5PA Dev motor, speech delayMat451
    5 p15.31-pter 9.5 F PA Speech delay, dysmorphic Pat 4 52
    5 p15.3-pter8.2FPA Cat cry at birth, low birth weightPat453
    5 p15.3-pter9.5MPA Speech delay, hearing loss, mild MRBoth3Family I54
    5 p15.3-pter9.5MPA Speech delay, mild dev delayMat2Family II54
    5 p15.3-pter8.7MPA Speech delay, raspy voiceMat3Family III54
    5 p15.3-pter8.7MPA Speech and dev delayBoth6Family IV54
    5 p15.1-pter13.6PA MCAMat255
    5 p14-p15.320.4PA Cri-du-chatMat256
    5 p13.3-p14.313.6PA Microcephaly, smallMat457
    5 p13.1-p14.28.2MPA Speech delayBoth621
    5 p13-p15.117.0PD Maternal ageMat458
    8 p23.1-pter6.2FPA Mental slowness, behaviour, seizuresPat359
    9 q31.2-q32 3.2 PA Dev dela, FTT, unusual appearance Matm 2 60
    11 q24.2-qter9.6PA Dev delayMat261
    13 q14.1-q21.319.9BPA LeukocoriaMat262
    14 q31-q318.2MPA Dev delayBoth463
    15 q11-q122.0MPA MRMat264
    18 p11.3-pter5.7F, PPD Previous son with MRMat265
    18 p11.21-pter 12.9 PA MR; short stature Mat 2 66
    18 p11.2-pter14.3PPD Abnormal ultrasoundMat267
    18 p11.23-pter7.2PPA MCAMat368
    18 p11.2-pter14.3FPA MR, short statureMat269
    18 p (pre-banding)20.1PA Failure to thrive, ptosisMatm370
    18 q23-qter5.7MPA DysmorphicMat271
    18 ?q21-qter30.8PA MCAMat572
    18 q22.3-qter8.6PAMat273
    20 p11.2-p12.25.8PA DysmorphicMat274
    21 q11-q21.317.3MPA Dislocated hipsMat275
    22 q11.2-q11.22.0MPA Cardiac failureMat476
    Subtotal38 familiesAv 10.921/38PA 35/38; PD 3/38Mat 32/38; 
 >pat 3/38; 
 >both 4/38107 6/38 Abstracts only
    1q23-q2515.7PA Mild MR and dysmorphismMat2Family A77
    3 q25.3-q26.2 17.0 F PA Microcephaly; CHD and deafness Both 9 78
    4q31.22-q3319.5PA Mild MR and dysmorphismMat2Family B77
    4q31.1-q32.318.6FPA Dev delay, nasal speechMat379
    5 q15-q22.1 13.6 PA Hyperactive, mild MR Mat 2 80
    7p12.2-p135.5FPA Failure to thriveMat481
    7p12.1-p136.9F,MPA Short stature, ?Silver-RussellMat282
    7 q32-q36.1 17.8 PA Dev delay, behavioural problems Mat 2 83
    8p23.1-p23.16.5PPA CHDPatm284
    8p23.1-p23.16.5PA Dev delayMat3Family 333
    8p23.1-p23.16.5PA* Dev delay, hypotonia, (PWS)Pat2Family 433
    8p22-p23.19.6FPA Mild MR onlyMat385
    8p21.3-p23.19.6PPA CHDMat3Family 186
    8p21.3-p23.19.6PPA Speech delayPat3Family 286
    8p21.3-p22 or p22-p23.19.6PPA MR, short stature, hypertelorismMat387
    8p12-p21.16.9F,BPA Dev delayMat488
    9p22-p2411.4FPA Short, low IQ, dysmorphicPat289
    10p13-p154.0FPA Dev delay especially speechBoth690
    11q13.5-q21 or q21-q23.113.8FPD Maternal ageMat291
    14q13-q2226.1PPA Dev delayMat392
    15q11.2-q134.0MPA Dev delay, hypogonadismMat*6Family 235
    15q11.2-q134.0MPA Severe MRMat*3Family 335
    15q11.2-q134.0MPA Dev delayMat*5Family 435
    15q11-q134.0F+MPA Dev delayMat6Family A93
    16 q11.2-q12.15.1FPA Speech delayPat4Family 294
    18cen-pter21.5FPA Dysmorphic, moderate MRMatm295
    21q22-qter18.3FPA Unusual appearanceMat321
    Subtotal27 familiesAv 10.921/27PA 25/27; PA* 1/26; PD 1/26Mat 20/27; 
 >pat 5/27; 
 >both 2/27191 3/27 Abstracts only
    der(8)dup 2q11.2-q21.128.1PPA Unusual facies, language delayMat296
    ins(7;22)del 22q13.3FPA Mitral valve prolapseMat297
    der(9) dup 10p14-p1515.0F,MPA MCAPat398
    der(16) dup q11.2-q13.111.9FPA Dev delayMatm3Family 194
    der(4)del 4q34-qter; dup 5p15.1-pter13.3FPA MR, dysmorphicMat299
    t(4;14) del 4 or 1410.0MPA Genital and retinal abnormalitiesPat2100
    der(4) del 4q35.2-qter; del 22q11.2-pter1.3PA CHD, dysmorphismMat2101
    t(4;22) 12.4
    der(5) del 5p15.32-pter; dup? 6.8 F PA ?Cri-du-chat Both 4 102
    der(10) dup 5q35-qter; del 10q26.13-qter3.4FPA DysmorphicMat2Family 1103
    t(5;10) 6.6
    der(22) del 21q21.2-pter21.6FPA* Sibling with Down’s syndromeMat5104
    der(20) dup 6p23-pter; del 20p13-pter17.4FPA Dev delay, dysmorphic featuresPat2105
    t(6;20) 4.4
    der(Y) dup 8p22-pter17.8PMC Miscarriages ×3Pat3106
    Subtotal12 families11/12PA 10/12; MC 1/12; PA* 1/12Mat 6/12; 
 >pat 5/12; 
 >both 1/12132 1/12 Abstracts only
Totals77 families53/77PA 71/77; PA* 1/77; PD 4/77; MC 1/77Mat 58/77; 
 >pat 12/77; 
 >both 7/77230 10/77 Abstracts only