Table 2. Clinical features of patients with deletion of 1q43–q44.
| Patient | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Age (years) | 2 | 7 | 6 | 11 | 3.5 | 17 |
| Sex | M | F | F | M | F | F |
| Age at evaluation | 6 months | 2 years | 3 years | 9 years | 11 months | 7.5 years |
| Reason for aCGH | Right sex cord stromal tumor, GDD | GDD, microcephaly, CCA | Microcephaly | Microcephaly, GDD, seizures, TOF | Microcephaly, genito-urinary abnormalities, VSD | Mild DD |
| FOC (centile) | <3 | <5 | <5 | <3 | <3 | 50 |
| Wt (centile) | 40 | <5 | <5 | 30 | 25 | 57 |
| HT (centile) | 90 | 50 | <5 | NA | 50 | 75 |
| Cranio-facial dysmorphism | ||||||
| Head | Microcephaly, flat occiput | Microcephaly | Microcephaly with brachycephaly | Microcephaly | Microcephaly | Normal |
| Facial dysmorphic features | − | Hypertelorism | Depressed nasal bridge | − | + | − |
| Nervous system | ||||||
| Developmental delay | GDD | GDD | GDD | GDD | GDD | Mild DD |
| Seizures | + | − | − | + | − | − |
| Hypotonia | + | − | − | − | − | − |
| Behavioral issues | − | Aggressive | − | − | − | Anxiety |
| Structural brain abnormalities | ACC, temporal pachygyria, occipital polymicrogyria | Thinning of corpus callosum and hypoplasia of splenium, prominent cisterns with cerebral volume loss | ACC, mild simplification of cerebral gyri | Severe thinning of corpus callosum, small cerebral hemispheres, dilated subarchnoid space, cerebellar atrophy | None | None |
| Heart | None | None | ASD | TOF | VSD | None |
| Other organ system involvement | Sex cord stromal tumor | None | Polysyndactyly of toes | Hirschsprung disease | Renal hypoplasia and ureteral duplication | None |
Abbreviations: ACC, agenesis of corpus callosum; CCA, corpus callosum abnormalities; DD, developmental delay; GDD, global developmental delay; NA, data not available, TOF, Tetralogy of Fallot; VSD, ventricular septal defect.