Jacobsen Syndrome with 11q Deletion, Trigonocephaly, and MYBPC3 Mutation: A Unique Case Report

Abstract

Jacobsen syndrome (JS), also known as 11q deletion disorder, is a rare chromosomal condition characterized by a wide range of congenital anomalies, developmental delays, and hematological abnormalities. This report presents the case of a 9-month-old female child with trigonocephaly, mild developmental delay, hypotonia, and ocular tracking issues. Initial examinations revealed a small atrial septal defect (ASD), a depressed and broad nasal bridge, epicanthic folds, low-set ears, overfolded helices, a smooth philtrum, and a high palate. Genetic testing, including clinical exome sequencing and chromosomal microarray analysis, identified a pathogenic heterozygous copy number deletion in the 11q23.3-q25 region, confirming the diagnosis of Jacobsen syndrome. Additionally, mutations in the MYBPC3 and SYNE1 genes were identified. The MYBPC3 mutation is notable due to its association with cardiomyopathy, a finding that adds complexity to the cardiac profile typically observed in Jacobsen syndrome. Cardiomyopathy was diagnosed in the patient, emphasizing the importance of early cardiological evaluation. The diagnosis underscores the importance of early genetic evaluation in children with congenital anomalies and developmental delays. Comprehensive management involving genetic counseling, regular monitoring, and supportive therapies is essential to address the diverse needs of patients with Jacobsen syndrome. This case highlights the necessity for continued research and awareness to enhance understanding, treatment, and long-term outcomes for individuals affected by this rare chromosomal disorder.