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

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
8p23.1PA Short statureBoth3Family 5108
Family 2109
9p+PA MCAMat6Family 2130
9p+PA Protruding tongueMat2131
9q13-q21 (q12/qh)PA Hypoplastic lungs and hydropsMat2132
15q11.2vFPA AutismPat2Family F120
15q11.2vFPA Dev delay, mod MRMat2Family G120
15q11.2vFPA Autism and mild dysmorphismMat2Family H120
15q11.2vFPA Dev delay, mild dysmorphic features, inguinal hernia, talipesBoth5Family 1133
15q11.2vFPA Dev delay, gynaecomastiaMat2Family 2133
15q11.2-q13MPA ?FX Dev delay, learning difficultiesBoth3Family 5121
15q11.2-q13MPA DD Communication difficultiesBoth3Family 6121
15q11.2-q13MPA ?FX Language disorder, macrocephalyPat2Family 7121
15q11.2-q13MPA ?FX Communication problemsPat2Family 8121
15q11.2-q13MPA SS; Mild dev delayMat3Family 9121
15q11.2-q13MPA CHD; VSD, pulmonary stenosis, hypoplastic toesMat2Family 10121
15q11.2-q13MPA ?Beckwith-WiedemannPat2Family 11121
15q11.2-q13MPA IUGR, antimongoloid slant, epicanthic folds ?+21Pat2Family 12121
15q11.2-q13MPA FTT Sickly child, poor growthMat2Family 13121
15q12-q13PA Skeletal abnormalitiesMat4Patient E134
15q12-q13PA Hydrops (non-immune)Mat3Patient A134
15q11.2PA Hypotonia; ?PWSPat2135
15q11.2-q12PA ObesityMat2136
15q11-q13PA Congenital abnormalitiesPat2137
15 q11.2-q13.3 PA Prader-Willi syndrome in child Pat 2 138
16p11.2PA Dev delay, dysmorphism; MD MyelodysplasiaBoth8Case 3128,139
16p11.2PA Macrocephaly and hypospadiasBoth3Case 1140
16p11.2PA MCAMat2Case 2140
16p11.2PA Cleft palateBoth3141
16 p12+ PA ?Fragile X syndrome Pat 2 12
Total3015/30PA 29/30; PA + MD 1/3013/30 Mat; 
 >9/30 pat; 
 >8/30 both84 3/30 Abstract only