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

	Region	Size	Con	Ascertainment	Mode	C	Ref
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.
del
1	q42.1-q42.3	7.1	P	PA Dev delay, ADD	Mat	2	45
2	p11.2-p12	7.5	F,M	PA Wilm,s tumour, dev delay	Mat	2	Family 3¹
3	p25-pter	9.1	–	PA Speech delay	Mat	2	46
4	p15.2-p16.1	15.9	–	PA	Mat	2	47
4	q33-qter	18.6	F	PA MCA inc macrocephaly and language delay	Mat	2	48
4	q33-q35.1	13.3	–	PA Dev delay	Mat	3	49
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-pter	9.5	–	PA Dev motor, speech delay	Mat	4	51
5	p15.31-pter	9.5	F	PA Speech delay, dysmorphic	Pat	4	52
5	p15.3-pter	8.2	F	PA Cat cry at birth, low birth weight	Pat	4	53
5	p15.3-pter	9.5	M	PA Speech delay, hearing loss, mild MR	Both	3	Family I⁵⁴
5	p15.3-pter	9.5	M	PA Speech delay, mild dev delay	Mat	2	Family II⁵⁴
5	p15.3-pter	8.7	M	PA Speech delay, raspy voice	Mat	3	Family III⁵⁴
5	p15.3-pter	8.7	M	PA Speech and dev delay	Both	6	Family IV⁵⁴
5	p15.1-pter	13.6	–	PA MCA	Mat	2	55
5	p14-p15.3	20.4	–	PA Cri-du-chat	Mat	2	56
5	p13.3-p14.3	13.6		PA Microcephaly, small	Mat	4	57
5	p13.1-p14.2	8.2	M	PA Speech delay	Both	6	21
5	p13-p15.1	17.0	–	PD Maternal age	Mat	4	58
8	p23.1-pter	6.2	F	PA Mental slowness, behaviour, seizures	Pat	3	59
9	q31.2-q32	3.2	–	PA Dev dela, FTT, unusual appearance	Mat^m	2	60
11	q24.2-qter	9.6	–	PA Dev delay	Mat	2	61
13	q14.1-q21.3	19.9	B	PA Leukocoria	Mat	2	62
14	q31-q31	8.2	M	PA Dev delay	Both	4	63
15	q11-q12	2.0	M	PA MR	Mat	2	64
18	p11.3-pter	5.7	F, P	PD Previous son with MR	Mat	2	65
18	p11.21-pter	12.9	–	PA MR; short stature	Mat	2	66
18	p11.2-pter	14.3	P	PD Abnormal ultrasound	Mat	2	67
18	p11.23-pter	7.2	P	PA MCA	Mat	3	68
18	p11.2-pter	14.3	F	PA MR, short stature	Mat	2	69
18	p (pre-banding)	20.1	–	PA Failure to thrive, ptosis	Mat^m	3	70
18	q23-qter	5.7	M	PA Dysmorphic	Mat	2	71
18	?q21-qter	30.8	–	PA MCA	Mat	5	72
18	q22.3-qter	8.6	–	PA	Mat	2	73
20	p11.2-p12.2	5.8	–	PA Dysmorphic	Mat	2	74
21	q11-q21.3	17.3	M	PA Dislocated hips	Mat	2	75
22	q11.2-q11.2	2.0	M	PA Cardiac failure	Mat	4	76
Subtotal	38 families	Av 10.9	21/38	PA 35/38; PD 3/38	Mat 32/38;   >pat 3/38;   >both 4/38	107	6/38 Abstracts only
dup
1	q23-q25	15.7	–	PA Mild MR and dysmorphism	Mat	2	Family A⁷⁷
3	q25.3-q26.2	17.0	F	PA Microcephaly; CHD and deafness	Both	9	78
4	q31.22-q33	19.5	–	PA Mild MR and dysmorphism	Mat	2	Family B⁷⁷
4	q31.1-q32.3	18.6	F	PA Dev delay, nasal speech	Mat	3	79
5	q15-q22.1	13.6	–	PA Hyperactive, mild MR	Mat	2	80
7	p12.2-p13	5.5	F	PA Failure to thrive	Mat	4	81
7	p12.1-p13	6.9	F,M	PA Short stature, ?Silver-Russell	Mat	2	82
7	q32-q36.1	17.8	–	PA Dev delay, behavioural problems	Mat	2	83
8	p23.1-p23.1	6.5	P	PA CHD	Pat^m	2	84
8	p23.1-p23.1	6.5	–	PA Dev delay	Mat	3	Family 3³³
8	p23.1-p23.1	6.5	–	PA* Dev delay, hypotonia, (PWS)	Pat	2	Family 4³³
8	p22-p23.1	9.6	F	PA Mild MR only	Mat	3	85
8	p21.3-p23.1	9.6	P	PA CHD	Mat	3	Family 1⁸⁶
8	p21.3-p23.1	9.6	P	PA Speech delay	Pat	3	Family 2⁸⁶
8	p21.3-p22 or p22-p23.1	9.6	P	PA MR, short stature, hypertelorism	Mat	3	87
8	p12-p21.1	6.9	F,B	PA Dev delay	Mat	4	88
9	p22-p24	11.4	F	PA Short, low IQ, dysmorphic	Pat	2	89
10	p13-p15	4.0	F	PA Dev delay especially speech	Both	6	90
11	q13.5-q21 or q21-q23.1	13.8	F	PD Maternal age	Mat	2	91
14	q13-q22	26.1	P	PA Dev delay	Mat	3	92
15	q11.2-q13	4.0	M	PA Dev delay, hypogonadism	Mat*	6	Family 2³⁵
15	q11.2-q13	4.0	M	PA Severe MR	Mat*	3	Family 3³⁵
15	q11.2-q13	4.0	M	PA Dev delay	Mat*	5	Family 4³⁵
15	q11-q13	4.0	F+M	PA Dev delay	Mat	6	Family A⁹³
16	q11.2-q12.1	5.1	F	PA Speech delay	Pat	4	Family 2⁹⁴
18	cen-pter	21.5	F	PA Dysmorphic, moderate MR	Mat^m	2	95
21	q22-qter	18.3	F	PA Unusual appearance	Mat	3	21
Subtotal	27 families	Av 10.9	21/27	PA 25/27; PA* 1/26; PD 1/26	Mat 20/27;   >pat 5/27;   >both 2/27	191	3/27 Abstracts only
der
der(8)	dup 2q11.2-q21.1	28.1	P	PA Unusual facies, language delay	Mat	2	96
ins(8;2)	dup 2q11.2-q21.1	28.1	P	PA Unusual facies, language delay	Mat	2	96
ins(7;22)	del 22q13.3	–	F	PA Mitral valve prolapse	Mat	2	97
der(9)	dup 10p14-p15	15.0	F,M	PA MCA	Pat	3	98
ins(9;10)	dup 10p14-p15	15.0	F,M	PA MCA	Pat	3	98
der(16)	dup q11.2-q13.1	11.9	F	PA Dev delay	Mat^m	3	Family 1⁹⁴
ins(16;16)	dup q11.2-q13.1	11.9	F	PA Dev delay	Mat^m	3	Family 1⁹⁴
der(4)	del 4q34-qter; dup 5p15.1-pter	13.3	F	PA MR, dysmorphic	Mat	2	99
t(4;5)	del 4q34-qter; dup 5p15.1-pter	15.0	F	PA MR, dysmorphic	Mat	2	99
t(4;14)	del 4 or 14	10.0	M	PA Genital and retinal abnormalities	Pat	2	100
der(4)	del 4q35.2-qter; del 22q11.2-pter	1.3	–	PA CHD, dysmorphism	Mat	2	101
t(4;22)	del 4q35.2-qter; del 22q11.2-pter	12.4	–	PA CHD, dysmorphism	Mat	2	101
der(5)	del 5p15.32-pter; dup?	6.8	F	PA ?Cri-du-chat	Both	4	102
t(5;?)	del 5p15.32-pter; dup?	–	F	PA ?Cri-du-chat	Both	4	102
der(10)	dup 5q35-qter; del 10q26.13-qter	3.4	F	PA Dysmorphic	Mat	2	Family 1¹⁰³
t(5;10)	dup 5q35-qter; del 10q26.13-qter	6.6	F	PA Dysmorphic	Mat	2	Family 1¹⁰³
der(22)	del 21q21.2-pter	21.6	F	PA* Sibling with Down’s syndrome	Mat	5	104
t(21;22)	del 21q21.2-pter	21.6	F	PA* Sibling with Down’s syndrome	Mat	5	104
der(20)	dup 6p23-pter; del 20p13-pter	17.4	F	PA Dev delay, dysmorphic features	Pat	2	105
t(6;20)	dup 6p23-pter; del 20p13-pter	4.4	F	PA Dev delay, dysmorphic features	Pat	2	105
der(Y)	dup 8p22-pter	17.8	P	MC Miscarriages ×3	Pat	3	106
t(Y;8)	dup 8p22-pter	17.8	P	MC Miscarriages ×3	Pat	3	106
Subtotal	12 families		11/12	PA 10/12; MC 1/12; PA* 1/12	Mat 6/12;   >pat 5/12;   >both 1/12	132	1/12 Abstracts only
Totals	77 families		53/77	PA 71/77; PA* 1/77; PD 4/77; MC 1/77	Mat 58/77;   >pat 12/77;   >both 7/77	230	10/77 Abstracts only