Chromosome 17q23.1-q23.2 deletion syndrome, also known as Del(17)(q23.1q23.2) or monosomy 17q23.1q23.2, is a rare genetic syndrome (<1/1000000) (Orphanet 2024) that has been reported in isolated cases and usually affects the head, face, ears, heart, vessels, hands, feet, and central nervous system, leading to growth retardation in affected patients. The syndrome can be diagnosed from birth with low birth weight and postnatal growth retardation symptoms to the later years of life with other signs and symptoms. Affected patients may manifest with only one symptom to several symptoms simultaneously including developmental delay, particularly speech delay, microcephaly, facial dysmorphia, hearing impairment, cardiac defects such as atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), mild to severe or refractory pulmonary hypertension, tracheoesophageal fistula (TEF), esophageal atresia (EA), ossification defects, long, thin fingers and toes, clubfoot, aggressive behavior, and autism spectrum disorder. The deletions on chromosome 17q involving the T-Box transcription factor 2 and 4 (TBX2 and TBX4) genes have been discovered to play a key role in chromosome 17q23.1-q23.2 deletion syndrome (Ballif et al. 2010).