CHARGE Syndrome in a Newborn with Rearrangement of Chromosomes 15 and Y. Case Report

Abstract

Preterm neonate of 35+4 weeks, delivered by cesarean section due to non-reassuring fetal status. Prenatal ultrasound history of intrauterine growth restriction, cardiac malformations, and suspected central nervous system abnormalities. At birth, the neonate presented with a dysmorphic syndrome, choanal atresia, low ear implantation with bilateral malformation of the auricular pavilions and micropenis. The karyotype reported variants in chromosomes 15 and Y. A medical genetics specialist clinically diagnosed CHARGE syndrome. The patient received multidisciplinary management, requiring invasive mechanical ventilation, tracheostomy, thoracostomy and gastrostomy. He was discharged but readmitted due to aspiration pneumonia and died before a molecular diagnosis of the presence of a pathogenic variant for CHD7 could be made. This report constitutes a case of clinical diagnosis of CHARGE syndrome that presented structural alterations in chromosomes 15 and Y, which have not been described or associated in the literature as responsible for the etiology of this syndrome.

Keywords

• coloboma
• charge syndrome
• congenital abnormalities
• mutation