19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.
Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital.
School of Medicine and Surgery, University of Milano Bicocca.
Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy.
- Published Article
Neuropsychiatric Disease and Treatment
Dove Medical Press
- Publication Date
Jan 01, 2017
Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.
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This record was last updated on 06/09/2018 and may not reflect the most current and accurate biomedical/scientific data available from NLM.
The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/29042784