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.

Villa, N., Scatigno, A., Redaelli, S., Conconi, D., Cianci, P., Farina, C., et al. (2016). 14q32.3-qter trisomic segment: A case report and literature review. MOLECULAR CYTOGENETICS, 9(1) [10.1186/s13039-016-0265-5].

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

VILLA, NICOLETTA
;
REDAELLI, SERENA;CONCONI, DONATELLA;FOSSATI, CHIARA;DALPRA', LEDA;
2016

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.
Articolo in rivista - Articolo scientifico
14q32.3-qter duplication; Array-CGH; Translocation (14; 21);
14q32.3-qter duplication; Array-CGH; Translocation (14; 21); Genetics; Molecular Biology; Genetics (clinical); Biochemistry; Molecular Medicine; Biochemistry (medical)
English
Villa, N., Scatigno, A., Redaelli, S., Conconi, D., Cianci, P., Farina, C., et al. (2016). 14q32.3-qter trisomic segment: A case report and literature review. MOLECULAR CYTOGENETICS, 9(1) [10.1186/s13039-016-0265-5].
Villa, N; Scatigno, A; Redaelli, S; Conconi, D; Cianci, P; Farina, C; Fossati, C; Dalpra', L; Maitz, S; Selicorni, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/140148
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