Structural rearrangements of chromosome 19p are rare, and their resulting phenotypic consequences are not well defined. This is the first study to report a cohort of eight patients with subtelomeric 19p13.3 microdeletions, identified using clinical chromosomal microarray analysis (CMA). The deletion sizes ranged from 0.1 to 0.86 Mb. Detailed analysis of the patients' clinical features has enabled us to define a constellation of clinical abnormalities that include growth delay, multiple congenital anomalies, global developmental delay, learning difficulties, and dysmorphic facial features. There are eight genes in the 19p13.3 region that may potentially contribute to the clinical phenotype via haploinsufficiency. Moreover, in silico genomic analysis of 19p13.3 microdeletion breakpoints revealed numerous highly repetitive sequences, suggesting LINEs/SINEs-mediated events in generating these microdeletions. Thus, subtelomeric 19p13.3 appears important for normal embryonic and childhood development. The clinical description of patients with deletions in this genomic interval will assist clinicians to identify and treat individuals with similar deletions.

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Death in tertiary care neonatal intensive care units is a common occurrence. Despite recent advances in pediatric palliative education, evidence indicates that physicians are poorly prepared to care for dying infants and their families. Numerous organizations recommend increased training in palliative and end-of-life care for pediatric physicians. The purpose of this study is to develop a structured end-of-life curriculum for neonatal-perinatal postdoctoral fellows based on previously established principles and curricular guidelines on end-of-life care in the pediatric setting. Results demonstrate statistically significant curriculum effectiveness in increasing fellow knowledge regarding patient qualification for comfort care and withdrawal of support (P = .03). Although not statistically significant, results suggest the curriculum may have improved fellows' knowledge of appropriate end-of-life medical management, comfort with addressing the family, and patient pain assessment and control.

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