We report a patient with duplication of 9pter-q22 combined with duplication of 16q22-qter. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation (46,XX,t[9;16;21]). This newborn had intrauterine growth retardation and microcephaly, the characteristic recognizable pattern of trisomy 9p, cerebellar hypoplasia, a porencephalic cyst in the parieto-occipital region, and rocker-bottom feet. We compare the clinical features with another previously described case of duplication of an identical 9p segment combined with distal 16q duplication of a similar, but not identical segment, as well as with cases with duplication of either one of the two segments.

Introduction: This contribution describes four different experiences of active engagement along the care pathway of people with chronic illness, performed at home and at the nursing clinic of the ASUGI Health District n. 1 in Trieste by a local care team. Case description: The Home Nursing Service, named SID, of the Local Districts of Trieste is based on the principle of improving the quality of life of citizens by providing adequate home care in the logic of continuity of care, consistently with the needs of the person, after a multidimensional assessment and the construction of a personalized care plan, aimed at increasing engagement and participation. ù Conclusions: This experience contributed to the cultural growth of professionals and to the systematic introduction of the PHE-S® evaluation tool in the home setting, improving also their relational skills.

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