Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up
Piccione, M., Antona, V., Scavone, V., Malacarne, M., Pierluigi, M., Grasso, M., et al. (2010). Array CGH defined interstitial deletion on chromosome 14: a new case. EUROPEAN JOURNAL OF PEDIATRICS, 169(7), 845-851.
Data di pubblicazione: | 2010 |
Titolo: | Array CGH defined interstitial deletion on chromosome 14: a new case |
Autori: | |
Citazione: | Piccione, M., Antona, V., Scavone, V., Malacarne, M., Pierluigi, M., Grasso, M., et al. (2010). Array CGH defined interstitial deletion on chromosome 14: a new case. EUROPEAN JOURNAL OF PEDIATRICS, 169(7), 845-851. |
Rivista: | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1007/s00431-009-1128-4 |
Abstract: | Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up |
Settore Scientifico Disciplinare: | Settore MED/38 - Pediatria Generale E Specialistica |
Appare nelle tipologie: | 1.01 Articolo in rivista |
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