Patient
|
Sex and age of patient
|
Phenotype
|
Extent of triplication (probe order in fig1)
|
Middle repeat inverted
|
Parental origin
|
Patient 1, see also ref 25 | F, 12 y | Mild mental retardation, cleft palate, obesity | D15S18–D15S1019 | Yes | Paternal |
Patient 2, see also ref 26 | F, 6 y | Ataxia, mild mental retardation, speech delay | D15S11–D15S165 | Yes | Maternal |
Patient 3 | M, 7 mth | Severe mental retardation, generalised hypotonia, strabismus | D15S18–D15S1019 | Yes | Maternal |
Patient 4 | F, 2 4/12 y | Severe mental retardation, mild hypotonia, strabismus, brachycephaly | D15S18–D15S165 | Yes | Maternal |
Ref 4, 11 | F, 7 y | Mental retardation, hypotonia, seizure, autistic features | D15S18–D15S1043 | Yes | Maternal |
Ref 5 | F, 4 y | Developmental delay, seizure, ataxia | D15S18–D15S24 | Yes | Maternal |
Ref 3, 11 | F, 6 y | Developmental delay, hypotonia | ?–D15S1043 | — | Paternal |