{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T21:47:30Z","timestamp":1767649650103,"version":"3.44.0"},"reference-count":19,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The deletion of the long arm of chromosome 4 is rare, presenting with a variable phenotype depending on the chromosomic area affected. A term newborn with prenatal diagnosis of anhydramnios, dysplastic cystic kidneys, and cardiomegaly was born with generalized subcutaneous edema, several dysmorphic features, and progressive renal failure requiring dialysis. The infant continued to deteriorate and died at 52 days of age. Autopsy confirmed bilateral renal dysplasia with cysts. Array-comparative genomic hybridization (CGH) identified a large deletion on 4q25-q28.3, which is not yet described in association with renal disease. The clinical progression could be expected due to the severity of the perinatal clinical presentation.<\/jats:p>","DOI":"10.1055\/s-0039-1701043","type":"journal-article","created":{"date-parts":[[2020,1,22]],"date-time":"2020-01-22T19:35:33Z","timestamp":1579721733000},"page":"039-044","source":"Crossref","is-referenced-by-count":3,"title":["Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?"],"prefix":"10.53391","volume":"10","author":[{"given":"Cl\u00e1udia","family":"Teles-Silva","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"}]},{"given":"Francisca","family":"Martins","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Sandra","family":"Costa","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"}]},{"given":"Paulo","family":"Soares","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"}]},{"given":"Gustavo","family":"Rocha","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Filipa","family":"Flor-de-Lima","sequence":"additional","affiliation":[{"name":"Neonatology Service, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"}]},{"given":"Helena","family":"Pinto","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"},{"name":"Pediatric Nephrology Unit, Pediatrics Department, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Carla","family":"Ramalho","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina da Universidade do Porto, Porto, Portugal"},{"name":"Department of Ginecology and Obstetrics, Centro Materno Pedi\u00e1trico, Centro Hospitalar Universit\u00e1rio S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Instituto de Inova\u00e7\u00e3o e Investiga\u00e7\u00e3o em Sa\u00fade, Porto, Portugal"}]},{"given":"Renata","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical Genetics 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