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Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
- Source :
-
European Journal of Medical Genetics . Jan2019, Vol. 62 Issue 1, p47-54. 8p. - Publication Year :
- 2019
-
Abstract
- Abstract Array-based comparative genomic hybridization is a routine technology that helps clinicians in the diagnostic evaluation of individuals presenting with developmental delay or malformation anomalies. With this technique, several patients affected by microdeletion 2p15-p16.1 have been reported and this anomaly has been recognized as a distinct syndrome. In contrast, clinical features of patients with microduplication in the same region have been registered mainly in clinical and genetic data-bases and to date just a single patient has been reported in detail in the literature. A 12-year-old boy with 2p15-p16.1 microduplication presented with moderate neurodevelopment delay, epileptic seizures, behavioral disturbances, and minor dysmorphic features. The role of 2p15-p16.1 duplication in this case, and the others published in data-bases with a similar molecular duplication, are discussed. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17697212
- Volume :
- 62
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- European Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 133824655
- Full Text :
- https://doi.org/10.1016/j.ejmg.2018.05.001