A) Family tree that shows the individuals who were available for array-CGH. Some components of the family were reported as being affected by behavioural deficits. Arrow indicates the affected child. Full symbols indicate the individuals carrying the 17p13.3 duplication. NA indicates the individuals not available for array-CGH. B) Photographs of face and hands of the child carrying the 17p13.3 duplication. Mild facial anomalies such as thickened eyebrows, upslanting eyes, squared nasal tip, large and low-set ears. Short and stubby hands with low-set thumbs. The step mother gave consent to publish the photoghaphs of the child.
Capra et al. BMC Medical Genetics 2012 13:93 doi:10.1186/1471-2350-13-93