RESUMO
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.
RESUMO
The organization of perinatal care has been a pivotal mean for improvement in neonatal survivals. Despite the excellent standard of assistance in Lombardy, Obstetrics and Neonatal Units of MBBM Foundation-Monza, Manzoni Hospital-Lecco and Niguarda Hospital-Milan put forward a pilot project proposing reorganization of perinatal care in the northern part of Lombardy. The main goals of the project are implementation of maternal transport system and use of neonatal back transport as a system to increase the availability of intensive care beds. The project's fundamental steps and critical points will be discussed.