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Villa N, Scatigno A, Redaelli S, et al. 14q32.3-qter trisomic segment: a case report and literature review. Mol Cytogenet. 2016;9:60doi: 10.1186/s13039-016-0265-5.
Villa, N., Scatigno, A., Redaelli, S., Conconi, D., Cianci, P., Farina, C., Fossati, C., Dalprà, L., Maitz, S., & Selicorni, A. (2016). 14q32.3-qter trisomic segment: a case report and literature review. Molecular cytogenetics, 960. https://doi.org/10.1186/s13039-016-0265-5
Villa, Nicoletta, et al. "14q32.3-qter trisomic segment: a case report and literature review." Molecular cytogenetics vol. 9 (2016): 60. doi: https://doi.org/10.1186/s13039-016-0265-5
Villa N, Scatigno A, Redaelli S, Conconi D, Cianci P, Farina C, Fossati C, Dalprà L, Maitz S, Selicorni A. 14q32.3-qter trisomic segment: a case report and literature review. Mol Cytogenet. 2016 Aug 05;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016. PMID: 27499811; PMCID: PMC4974715.
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Mol Cytogenet. 2016 Aug 05;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016.

14q32.3-qter trisomic segment: a case report and literature review.

Molecular cytogenetics

Nicoletta Villa, Agnese Scatigno, Serena Redaelli, Donatella Conconi, Paola Cianci, Clotilde Farina, Chiara Fossati, Leda Dalprà, Silvia Maitz, Angelo Selicorni

Affiliations

  1. Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy.
  2. Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy.
  3. School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
  4. Neonatal Intensive Care Unit, Pediatric Department at MBBM Foundation, San Gerardo Hospital, Monza, Italy.
  5. Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy ; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.

PMID: 27499811 PMCID: PMC4974715 DOI: 10.1186/s13039-016-0265-5

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.

CASE PRESENTATION: 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.

Keywords: 14q32.3-qter duplication; Array-CGH; Translocation (14; 21)

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