Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations.

BACKGROUND: Chromosome 19p13.3 microdeletion syndrome is a rare and clinically heterogeneous genomic disorder. It is typically characterized by a wide spectrum of manifestations, including global developmental delay, various congenital anomalies, and distinct craniofacial dysmorphisms. Current literature suggests that phenotypic severity and the specific symptoms are highly dependent on the precise size and gene content of the deleted region.

METHODS AND RESULTS: Here we report the case of an 8-month-old female infant referred for evaluation of multisystemic complications. Clinical examination revealed a complex phenotype characterized by congenital heart defects, limb anomalies, macrocephaly, and recurrent pulmonary infections. Oligo-Array CGH revealed a 1.8 Mb deletion encompassing 55 genes. Although gastrointestinal symptoms have rarely been reported in this condition, the patient presented with gastrointestinal complications including vomiting and diarrhea.

CONCLUSION: This case expands the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underlying disease mechanisms.