Table 1. Phenotype of other deletions/duplicationsa affecting 2q14.2.
| Abnormality | Inheritance | Size (Mb) | Number of genes affected | Sex | Age of presentation (years) | Phenotype |
|---|---|---|---|---|---|---|
| Deletion | De novo | 13.7 | 58 | F | 3 | Behavioural problems Intellectual disability Cystic hygroma of neck |
| Deletion | De novo | 3.28 | 16 | M | Unknown | Feeding problems in infancy Hip, general abnormalities Joint laxity Intellectual disability Sandal gap of toes Short stature, general abnormalities Sleep apnoea Speech delay |
| Deletion | De novo | 6.53 | 21 | M | 3 | Oculomotor apraxia |
| Duplication | Unknown | 39.87 | 134 | M | Unknown | Unknown, pregnancy terminated |
| Duplication | De novo | 53.36 | 181 | F | 1 | Atrial septum defect Ectopic/supernumerary kidneys Delayed closure and large fontanelles Short stature, prenatal onset |
| Duplication | De novo | 147.5 | 732 | M | Unknown | |
| Duplication | Inherited from normal parent | 0.44 | 5 only partial duplication of PTPN4 | F | — | None |
| Duplication | Inherited from normal parent | 0.5 | 6 only partial duplication of PTPN4 | F | 4 | Intellectual disability Short stature, proportionate |
| Duplication | Inherited from normal parent | 0.53 | 6 only partial duplication of PTPN4 | M | 2 | Hydrocephalus/large ventricles, non-specific Macrocephaly Intellectual disability Seizures |
| Duplication | Inherited from normal parent | 0.44 | 5 only partial duplication of PTPN4 | — | None |
Abbreviations: F, female; M, male.
a
Deletions/duplications reported in DECIPHER database (http://decipher.sanger.ac.uk), accessed 1 July 2014.