Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
