Partial trisomy 5p and deletion of the 1p region causes severe psychomotor delay, refractory epilepsy and cleft lip and palate in a 10-year old girl – a long way to diagnosis

A partial trisomy 5p and deletion of the 1p region was found in a 10-year-old girl with severe psychomotor retardation, refractory epilepsy and cleft lip and palate. Extensive (neurometabolic and conventional cytogenetic) work-up showed no abnormalities. The patient's father has a balanced translocation between the short arm of chromosome 1 and 5. The now 10-year-old girl ist the first child of healthy, non-consanguineous parents. She developed refractory, generalized epilepsy at the age of 2 months. Vagal nerve stimulation is effective in reduction of seizure frequency and intensity. The cleft lip and palate was closed postnatally. The girl has a severe psychomotor delay without speech development and without the ability to sit or stand.

Conclusion: Microdeletions detected by fluorescence in situ hybridization (FISH) should be considered in patients with severe psychomotor retardation. The partial trisomy 5p and deletion 1p found in our patient has not been described in the literature so far.