Trisomy 14 with diaphragmatic hernia

Abstract

The patient was a 38 week female infant who was prenatally detected to have left sided diaphragmatic hernia which has not been previously described in literature. Diaphragmatic hernia is associated with chromosomal disorders. Multiple case reports have described Mosaic Trisomy 14 with distinctive characteristics. The patient shared few of the reported clinical features and had some novel phenotypic features. The patient was a term female infant who was prenatally detected to have left-sided diaphragmatic hernia at 34 weeks along with polyhydramnios, clover-shaped skull, and shortening of long bones. On delivery, the patient was noted to have multiple distinct features. The patient received maximal cardiorespiratory support but succumbed to the disease process after 6 days. Amniocentesis was performed on mother, and fluorescence in situ hybridization revealed duplication 14q24.2.2q32.33 and deletion 14q32.33. Karyotype on peripheral blood of the patient revealed partial Trisomy 14, by virtue of extra 14q32 region.