Table 1. Summary of the clinical features presented in six patients with deletion of 12q14.
Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | |
---|---|---|---|---|---|---|
Sex | F | F | M | M | M | M |
Birth weight (kg) | 2 kg at 36 weeks | 1.9 at 37+4 weeks | 3.6 kg at 39 weeks | 1.9 at 36 weeks | 2.9 at 36 weeks | 2.86 at 40 weeks |
Development | Moderate delay | Severe delay | Moderate delay | Severe delay | Moderate delay | Moderate delay |
Behaviour | Pleasant and friendly personality | Autism | Autism | |||
Feeding | Poor feeder gastrointestinal reflux | Poor feeder gastrostomy fed | Poor feeder | Pyloric stenosis | Poor feeder | Normal feeding |
Malformations | ?patent ductus | Atrial septal defect | Pulmonary stenosis and pectus excavatum | Atrial septal defect | Sub-aortic stenosis | |
Eyes | Convergent squint | Convergent squint | Hypermetropia | |||
Speech | Expressive speech delay | No speech | No speech age 6 years | Single words aged 6 years | Marked speech delay | Speech delay |