Table 1

Summary of patients with intrachromosomal 15q11-q14 triplication

Patient Sex and age of patient Phenotype Extent of triplication (probe order in fig1) Middle repeat inverted Parental origin
Patient 1, see also ref 25F, 12 yMild mental retardation, cleft palate, obesityD15S18–D15S1019YesPaternal
Patient 2, see also ref 26F, 6 yAtaxia, mild mental retardation, speech delayD15S11–D15S165YesMaternal
Patient 3M, 7 mthSevere mental retardation, generalised hypotonia, strabismusD15S18–D15S1019YesMaternal
Patient 4F, 2 4/12 ySevere mental retardation, mild hypotonia, strabismus, brachycephalyD15S18–D15S165YesMaternal
Ref 4, 11F, 7 yMental retardation, hypotonia, seizure, autistic featuresD15S18–D15S1043YesMaternal
Ref 5F, 4 yDevelopmental delay, seizure, ataxiaD15S18–D15S24YesMaternal
Ref 3, 11F, 6 yDevelopmental delay, hypotonia?–D15S1043Paternal