Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature. Issue 6 (10th April 2017)

• Record Type: Journal Article
• Authors: Douglas, Chad; Smith, Stephen A.; Rohena, Luis
• Is Part Of: American journal of medical genetics. Volume 173:Issue 6(2017)
• Page Start: 1673
• Page End: 1680
• Publication Date: 2017-04-10
• Subjects: paracentric inversion -- partial trisomy 13 -- paternal inversion -- trisomy 13; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38192
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Partial trisomies have often been reported secondary to inversion mutations. These occurrences are most frequently associated with pericentric inversions. In this report, we describe the first documented case of partial trisomy 13 secondary to a parental paracentric inversion, in this case a paternal paracentric 13q inversion. Our Patient exhibits a variety of clinical findings including global developmental delay with intellectual disability, sensorineural hearing loss, bilateral congenital polar cataracts with associated foveal and optic nerve hypoplasia, right retinal detachment, atrial septal defect, absence of corpus callosum, celiac disease, microcephaly, as well as other dysmorphic features.