A new de novo deletion 4q13.2q13.3 in a patient with mental retardation, growth retardation and various facial and skeletal dysmorphic features

Aims:

These days Array CGH allows genetic identification of before unknown dysmorphic syndromes with mental retardation.

Case report:

We report on a 14 year old female patient, who presented to us with mental retardation, growth retardation as well as various facial and skeletal dysmorphic features. Metabolic diagnostic and classical chromosome analysis were without pathological findings. The array CGH showed a deletion 4q13.2q13.3. (673,367–76,280,639), size 8,6 mb, which was not found in the parents.

Conclusion:

To our knowledge this deletion has not been described before. Therefore it represents a new de novo mutation. The Decipher-Database reports on a male patient with mental retardation, growth retardation and speech delay with a new deletion 4q13.2q13.3 (rs66,811,784–74,643,873) of 7,38 mb in the same area. This deletion overlaps the deletion of our patient in 6,97 mb, therefore genetic defect of our patient can be regarded responsible for the phenotype.