Appendix 4 Group 1 EV: phenotypically unaffected parents with the same euchromatic variant as their unaffected children

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; SB, stillbirth; I, infertility; Mat, maternal; Pat, paternal; Both, maternal and paternal transmission; m, mosaic.
8p23.1PPD Maternal agePat2107
8p23.1FMC MiscarriagesMat6Family 1108
Family 1109
8p23.1FPD Maternal agePat3Family 2108
8p23.1PD Maternal ageBoth4Family 4108
8 p23.1 PD SIR Pat 2 Case 1 110
8 p23.1 PD Pat 2 Family 1 111
8 p23.1 PD Pat 2 Family 2 111
8 p23.1 PD Mat 2 Family 3 111
9p12PD Previous NTDBoth4Family 1112
9p12PD Previous NTDMat2Family 2112
9p12PD Previous NTDMat3Family 3112
9p11.2-p12NS Newborn surveyMat2113
9p11.2-p12PD Previous +21Pat2Family 1114
9p11.2-p12PD Maternal ageMat5Family 2114
9q12/qhFPD Maternal agePat2115
9q12/qhPA* Down’s syndromePat2116
9q12/qhPD Maternal ageMat2117
9q12/qhMC MiscarriagesPat2Family 1118
9q12/qhPD Maternal agePat2Family 2118
9q12/qhPA* Trisomy 21 in siblingMat3119
15q11.2vFSB Pregnancy lossMat3Family A120
15q11.2vFPDMat2Family C120
15q11.2vFPDPat2Family D120
15q11.2vFPDMat2Family E120
15q11.2-q13MPD Serum increased riskMat2Family 16121
15q11.2-q13MPD Serum increased riskMat2Family 17121
15q11.2-q13MPD Maternal agePat3Family 18121
15q11.2-q13MPD Raised AFPBoth3Family 19121
15q11.2-q13MPD Serum increased riskPat3Family 20121
15q11.2→q13PPD Maternal agePat2122
16p11.2vFMC MiscarriagesMat2Case 1123
16p11MC Miscarriages and stillbirthMat2Family 1124
16p11PD Not recordedPat2Family 2124
16p11PD Maternal ageMat4125
16p11PD Maternal ageMat2126
16p11PD Parental anxietyMat2127
16p11PD FH NTDPat2Case 1128
16p11PD Maternal agePat2Case 2128
Total3815/38PD 30/38; MC 4/38; PA* 2/38; SB 1/38; NS 1/3818/38 Mat; 
 >17/38 Pat; 
 >3/38 Both94 4/38 Abstracts only