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Array CGH defined interstitial deletion on chromosome 14: a new case.

Authors :
Piccione, Maria
Antona, Vincenzo
Scavone, Valeria
Malacarne, Michela
Pierluigi, Mauro
Grasso, Marina
Corsello, Giovanni
Source :
European Journal of Pediatrics; Jul2010, Vol. 169 Issue 7, p845-851, 7p, 2 Black and White Photographs, 1 Diagram, 2 Charts
Publication Year :
2010

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03406199
Volume :
169
Issue :
7
Database :
Complementary Index
Journal :
European Journal of Pediatrics
Publication Type :
Academic Journal
Accession number :
50870205
Full Text :
https://doi.org/10.1007/s00431-009-1128-4