Clinical features of patients with translocation (1;7) and neurological phenotype.
| Studies | Cytogenetic abnormality | Head/neck | Neurological features | Neuroradiology | Other malformations |
|---|---|---|---|---|---|
| Chuang et al2 | t(1;7)(q32;q32) | Small mouth, hypotelorism, flat nose | Fetal period, termination of pregnancy | Alobar holoprosencephaly | Absence of ethmoidal and nasal bones |
| Schinzel6,73 cases | t(1;7)(q32;q34) | Cyclopic features | NA | Holoprosencephaly | Hydronephrosis |
| Yan et al7 | t(1;7)(p22;q21) | High Arched palate Narrowed mandible | Autism Schizophrenia | NA | NA |
| McPherson et al4et alet | t(1;7) (p22;q22) | High Arched palate Narrowed mandible | Autism Schizophrenia | NA | NA |
| McPherson et al4et alet | t(1;7)(q21.3;q34) | Coarse facial appearance, hirsutism, wide mouth, micrognathia | GDD, hypotonia, microcephaly | NA | Absent nails, hypoplastic 5th finger |
| Current study | |||||
| Patient 1 | t(1;7)1q42.3q44, 7q36.1q36.3 | Wide forehead, hypotelorism | Seizures, GDD, microcephaly hypotonia | Agenesis of the corpus callosum, hypoplasia of the inferior vermis | Hypospadias Undescended testis |
| Patient 2 | t(1;7)1q42.3q44, 7q36.1q36.3 | Wide forehead, hypotelorism | GDD, microcephaly | Thick and abnormal corpus callosum, hypoplasia of the inferior vermis | Right club foot |
| Patient 3 | t(1;7) 1q42.3q44, 7q36.1q36.3 | Wide forehead, hypotelorism | Seizures, GDD, microcephaly | Atretic cephalocele, agenesis of corpus callosum, hypoplasia of the inferior vermis | NA |
NA - not available, GDD - global developmental delay