Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | |
Current age (years) | 9/12 | 13/12 | 2 | 8 | 12 | 13 | 13 | 23 | 23 |
Deletion | 4q21.1q21.22 | 4q21.1q21.23 | 4q13.3q21.21 | 4q21.21q22.3 | 4q21.21q21.22 | 4q13.3q21.23 | 4q21.21q21.23 | 4q21.21q21.23 | 4q21.21 |
Size (Mb) | 6.6 | 9.6 | 13.5 | 15.1 | 3.2 | 9.7 | 6.3 | 4.5 | 5.5 |
Distinctive facial features | + | + | + | + | + | + | + | + | + |
(a) Frontal bossing, broad forehead | + | + | + | + | − | + | + | + | − |
(b) Hypertelorism | + | + | + | − | + | − | + | + | − |
(c) Short philtrum | − | − | + | + | + | + | − | + | + |
Developmental delay/severe mental retardation | + | + | + | + | + | + | + | + | + |
(a) Severely delayed speech | Na | Na | + | + | + | + | + | + | + |
(b) Neonatal hypotonia | + | + | + | + | + | + | + | + | + |
Measurement abnormalities | + | + | + | + | + | + | + | + | + |
(a) IUGR birth weight | −25th to 50th centile | −50th to 75th centile | +<10th centile | −25th centile | +<10th centile | −25th centile | −50th to 75th centile | +<10th centile | −25th to 50th centile |
(b) Postnatal growth delay | −1.5 SD | –1 SD | +−5 SD | +−5 SD | +−3.5 SD | +−4 SD | +−5.9 SD | +<−4 SD | +<−4 SD |
(c) Conserved head circumference | ++2 SD | +>+3 SD | + −0.75 SD | +−0.5 SD | +−1.5 SD | +Median | +Median | +Median | +Median |
(d) Small hands and small feet | + | + | + | − | + | + | − | + | − |
(e) Brachydactyly | + | − | + | − | + | + | − | − | − |
Cerebral imagery | Ventricular dilatation, corpus callosum hypoplasia, cerebellar vermis hypoplasia and frontal cerebral hypoplasia | Frontotemporal hypoplasia | Normal | Cerebral hypoplasia, ventricular dilatation | Hypoplastic cerebellar vermis | Frontal cerebral hypoplasia, large ventricles | Discrete cerebral hypoplasia, periventricular gliosis | Cerebral hypoplasia, ventricular dilatation | Global cerebellar hypoplasia |
+, Feature present; −, feature absent; Na, not assessable.