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 [10.1007/s00431-009-1128-4].
Array CGH defined interstitial deletion on chromosome 14: a new case
PICCIONE, Maria;CORSELLO, Giovanni
2010-01-01
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
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