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

	Region	Con	Ascertainment	Mode	C	Reference
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.
8	p23.1	P	PD Maternal age	Pat	2	107
8	p23.1	F	MC Miscarriages	Mat	6	Family 1¹⁰⁸
8	p23.1	F	MC Miscarriages	Mat	6	Family 1¹⁰⁹
8	p23.1	F	PD Maternal age	Pat	3	Family 2¹⁰⁸
8	p23.1	–	PD Maternal age	Both	4	Family 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
9	p12	–	PD Previous NTD	Both	4	Family 1¹¹²
9	p12	–	PD Previous NTD	Mat	2	Family 2¹¹²
9	p12	–	PD Previous NTD	Mat	3	Family 3¹¹²
9	p11.2-p12	–	NS Newborn survey	Mat	2	113
9	p11.2-p12	–	PD Previous +21	Pat	2	Family 1¹¹⁴
9	p11.2-p12	–	PD Maternal age	Mat	5	Family 2¹¹⁴
9	q12/qh	F	PD Maternal age	Pat	2	115
9	q12/qh	–	PA* Down’s syndrome	Pat	2	116
9	q12/qh	–	PD Maternal age	Mat	2	117
9	q12/qh	–	MC Miscarriages	Pat	2	Family 1¹¹⁸
9	q12/qh	–	PD Maternal age	Pat	2	Family 2¹¹⁸
9	q12/qh	–	PA* Trisomy 21 in sibling	Mat	3	119
15	q11.2v	F	SB Pregnancy loss	Mat	3	Family A¹²⁰
15	q11.2v	F	PD	Mat	2	Family C¹²⁰
15	q11.2v	F	PD	Pat	2	Family D¹²⁰
15	q11.2v	F	PD	Mat	2	Family E¹²⁰
15	q11.2-q13	M	PD Serum increased risk	Mat	2	Family 16¹²¹
15	q11.2-q13	M	PD Serum increased risk	Mat	2	Family 17¹²¹
15	q11.2-q13	M	PD Maternal age	Pat	3	Family 18¹²¹
15	q11.2-q13	M	PD Raised AFP	Both	3	Family 19¹²¹
15	q11.2-q13	M	PD Serum increased risk	Pat	3	Family 20¹²¹
15	q11.2→q13	P	PD Maternal age	Pat	2	122
16	p11.2v	F	MC Miscarriages	Mat	2	Case 1¹²³
16	p11	–	MC Miscarriages and stillbirth	Mat	2	Family 1¹²⁴
16	p11	–	PD Not recorded	Pat	2	Family 2¹²⁴
16	p11	–	PD Maternal age	Mat	4	125
16	p11	–	PD Maternal age	Mat	2	126
16	p11	–	PD Parental anxiety	Mat	2	127
16	p11	–	PD FH NTD	Pat	2	Case 1¹²⁸
16	p11	–	PD Maternal age	Pat	2	Case 2¹²⁸
Total	38	15/38	PD 30/38; MC 4/38; PA* 2/38; SB 1/38; NS 1/38	18/38 Mat;   >17/38 Pat;   >3/38 Both	94	4/38 Abstracts only