Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion |
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| Authors: | Willem MA Verhoeven Jos IM Egger Luc Goffin Laura JCM van Zutven Grazia MS Mancini |
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| Institution: | 1. Department of Medical Research, China Medical University Hospital, Taichung, Taiwan;2. Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan;3. Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan;4. School of Post Baccalaureate Chinese Medicine, China Medical University, Taichung, Taiwan;5. Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan;6. School of Medicine, China Medical University, Taichung, Taiwan;7. School of Chinese Medicine, China Medical University, Taichung, Taiwan;8. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;9. Department of Pediatrics, Tri-Service General Hospital, Taipei, Taiwan;10. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan;11. Department of Biomedical Engineering, Florida International University, Miami, FL, USA;12. Neuro-Engineering, Miami Children''s Hospital, Miami, FL, USA;13. Department of Health and Nutrition Biotechnology, Asia University, Taichung, Taiwan |
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| Abstract: | A female patient, 20 years of age, is reported with a history characterized by developmental and psychomotor delay, and during grammar-school period increasing learning problems, ritualistic behaviours and social withdrawal. Subsequently, challenging and autistic-like behaviours became prominent. The patient showed mild facial dysmorphisms, long thin fingers with bilateral mild short V metacarpals, and hyperlaxity of the joints. Neuropsychiatric examination disclosed obsessive, ritualistic behaviours and vague ideas of reference. Neuropsychological assessment demonstrated mild intellectual disability, mental inflexibility and incongruent affect. MRI-scanning of the brain showed no relevant abnormalities. Genome wide SNP array analysis revealed a 1.2 Mb de novo interstitial microdeletion in 4q25 comprising 11 genes, that was considered to be causative for the developmental delay, perseverative cognitive phenotype and dysmorphisms.To the authors knowledge, this is the first report of a de novo 4q25 microdeletion that presents with a specific behavioural phenotype. |
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| Keywords: | SNP array 4q25 Intellectual disability Dysmorphic features Behavioural phenotype Neuropsychological phenotype |
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