Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Data de publicação: 01/01/2021

Autores da FMUP

• Ana Paula Soares Dias Ferreira

  Autor

• Carla Maria De Almeida Ramalho

  Autor

• Maria Hercília Ferreira Guimarães Pereira Areias

  Autor

Participantes de fora da FMUP

• Silva, A.
• Martins, F
• Costa, S.
• Rocha, G
• Oliveira, F.
• Pinto, H
• Oliveira, R
• Brandao, O

Unidades de investigação

• Ginecologia-Obstetrícia e Pediatria

• Patologia

Abstract

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.

Keywords

• chromosome 4q deletion; craniofacial malformations; renal dysplasia