PATIENT WITH SMALL INTERSTITIAL DELETION OF SHORT ARM OF CHROMOSOME 2

Purpose: This is a unique case presentation of an infant male who was diagnosed with chromosomal 2 deletion at Cook Children's. Since birth, he was noted to have a variety of physical anomalies. These anomalies include hearing loss, coloboma, choanal atresia, club feet, syndactyl, cardiac defects, microphallus, and facial defects. The male was born to a young first time mother and a middle aged father who have no family history of genetic anomalies or defects. The purpose is to record this rare chromosomal defect that has only been reported in literature five times. Methods: Retrospective review of one patient's medical records, including diagnostic imaging results, laboratory studies, and genetic studies from October 2012 to January 2013. Results: The genetic analysis revealed a small interstitial deletion of the short arm of chromosome 2. Conclusions: This is an extraordinarily rare case of a short arm chromosomal 2 deletion. While chromosomal deletions are rare, any presentation of such unique physical anomalies should be carefully evaluated. Chromosomal analysis plays a pivotal role in diagnosis and prognosis of future development, and influences future pregnancies. Awareness of this chromosomal defect will help educate others and allow for careful family planning in similar situations.