Open AccessRenal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?
Author(s) -
Cláudia Teles-Silva,
Francisca Martins,
Sandra Costa,
Paulo Soares,
Gustavo Rocha,
Filipa Flôr-de-Lima,
Helena Pinto,
Carla Ramalho,
Renata Maria Souza Oliveira,
Otília Brandão,
Hercília Guimarães
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1701043
Subject(s) - phenotype , comparative genomic hybridization , medicine , dysplasia , renal dysplasia , dialysis , pathology , chromosome , kidney , biology , genetics , gene
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.