Appendix 5 Group 2 EV: unaffected parents with the same euchromatic variant as their affected children

Chr	Region	Con	Ascertainment	Mode	C	Reference
Entries in italics are abstracts only. Abbreviations: 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; MD, Myelodysplasia; IUGR, intra-uterine growth retardation; Mat, maternal; Pat, paternal; Both, maternal and paternal transmission; ^m, mosaic.
8	p23.1	P	PA Dev delay: ADHD, mild dysmorphism	Both	4	129
8	p23.1	–	PA Short stature	Both	3	Family 5¹⁰⁸
8	p23.1	–	PA Short stature	Both	3	Family 2¹⁰⁹
9	p+	–	PA MCA	Mat	6	Family 2¹³⁰
9	p+	–	PA Protruding tongue	Mat	2	131
9	q13-q21 (q12/qh)	–	PA Hypoplastic lungs and hydrops	Mat	2	132
15	q11.2v	F	PA Autism	Pat	2	Family F¹²⁰
15	q11.2v	F	PA Dev delay, mod MR	Mat	2	Family G¹²⁰
15	q11.2v	F	PA Autism and mild dysmorphism	Mat	2	Family H¹²⁰
15	q11.2v	F	PA Dev delay, mild dysmorphic features, inguinal hernia, talipes	Both	5	Family 1¹³³
15	q11.2v	F	PA Dev delay, gynaecomastia	Mat	2	Family 2¹³³
15	q11.2-q13	M	PA ?FX Dev delay, learning difficulties	Both	3	Family 5¹²¹
15	q11.2-q13	M	PA DD Communication difficulties	Both	3	Family 6¹²¹
15	q11.2-q13	M	PA ?FX Language disorder, macrocephaly	Pat	2	Family 7¹²¹
15	q11.2-q13	M	PA ?FX Communication problems	Pat	2	Family 8¹²¹
15	q11.2-q13	M	PA SS; Mild dev delay	Mat	3	Family 9¹²¹
15	q11.2-q13	M	PA CHD; VSD, pulmonary stenosis, hypoplastic toes	Mat	2	Family 10¹²¹
15	q11.2-q13	M	PA ?Beckwith-Wiedemann	Pat	2	Family 11¹²¹
15	q11.2-q13	M	PA IUGR, antimongoloid slant, epicanthic folds ?+21	Pat	2	Family 12¹²¹
15	q11.2-q13	M	PA FTT Sickly child, poor growth	Mat	2	Family 13¹²¹
15	q12-q13	–	PA Skeletal abnormalities	Mat	4	Patient E¹³⁴
15	q12-q13	–	PA Hydrops (non-immune)	Mat	3	Patient A¹³⁴
15	q11.2	–	PA Hypotonia; ?PWS	Pat	2	135
15	q11.2-q12	–	PA Obesity	Mat	2	136
15	q11-q13	–	PA Congenital abnormalities	Pat	2	137
15	q11.2-q13.3	–	PA Prader-Willi syndrome in child	Pat	2	138
16	p11.2	–	PA Dev delay, dysmorphism; MD Myelodysplasia	Both	8	Case 3^128,¹³⁹
16	p11.2	–	PA Macrocephaly and hypospadias	Both	3	Case 1¹⁴⁰
16	p11.2	–	PA MCA	Mat	2	Case 2¹⁴⁰
16	p11.2	–	PA Cleft palate	Both	3	141
16	p12+	–	PA ?Fragile X syndrome	Pat	2	12
Total	30	15/30	PA 29/30; PA + MD 1/30	13/30 Mat;   >9/30 pat;   >8/30 both	84	3/30 Abstract only