Possibilities of early diagnostics of chromosome 17q12 deletion syndrome in newborns with cystic dysplasia of the kidney

Abstract

The article presents clinical cases of chromosome 17q12 deletion syndrome in newborns. The analysis of clinical and phenotypic features suggesting the presence of pathology associated with the chromosome 17q12 region with an emphasis on the presence of cystic dysplasia of the kidneys is carried out. It is shown that cystic dysplasia was an isolated symptom that could not be detected without instrumental examination, which actualizes the need for early ultrasound examination. The established deletion of chromosome 17q12 in a patient born small for gestational age allows us to expand our understanding of the spectrum of genetic causes that cause low rates of physical development at birth. An algorithm for early diagnosis of this pathology in the neonatal period using whole exome sequencing and chromosomal microarray analysis is proposed. Monitoring of patients with cystic renal dysplasia associated with deletion of chromosome 17q12 should be carried out with the participation of a multidisciplinary team of specialists: nephrologist, pediatric endocrinologist, geneticist. A promising direction of research is the development and implementation of further monitoring of these patients, taking into account the diversity of the clinic.