title: 14q32.3-qter trisomic segment: a case report and literature review.
abstract: BACKGROUND
  Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes.
  
  
  METHODS
  We report the clinical and genetic characterization of a 4-year-old male patient with 14q32.3-qter trisomy resulting from an adjacent segregation of a paternal reciprocal translocation (14;21)(q32.1;p12). The child shows minor facial anomalies, severe developmental delay, growth retardation, and a history of congenital hypothyroidism and neonatal transitory hyperglycemic crises.
  
  
  CONCLUSIONS
  To the best of our knowledge, only 15 other cases of segmental 14q trisomy were documented. We compared molecularly defined cases to identify a minimal common duplicated region and to find genes with a hypothetical role in the phenotype. The presented case supports the previous suggestion of a pure "distal 14q partial duplication" and underlines the clinical variability.
authors: Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy.
authors: Nicoletta
authors: N
authors: Villa
authors: Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
authors: Agnese
authors: A
authors: Scatigno
authors: School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
authors: Serena
authors: S
authors: Redaelli
authors: School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
authors: Donatella
authors: D
authors: Conconi
authors: Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
authors: Paola
authors: P
authors: Cianci
authors: Neonatal Intensive Care Unit, Pediatric Department at MBBM Foundation, San Gerardo Hospital, Monza, Italy.
authors: Clotilde
authors: C
authors: Farina
authors: Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
authors: Chiara
authors: C
authors: Fossati
authors: Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy ; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
authors: Leda
authors: L
authors: Dalprà
authors: Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
authors: Silvia
authors: S
authors: Maitz
authors: Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
authors: Angelo
authors: A
authors: Selicorni
keywords: 14q32.3-qter duplication; Array-CGH; Translocation (14; 21)