title: Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature.
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.
authors.affiliation: Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.
authors.forename: Chad
authors.identifier: http://orcid.org/0000-0002-5268-696X
authors.initials: C
authors.lastname: Douglas
authors.affiliation: Department of Surgery, San Antonio Military Medical Center, San Antonio, Texas.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Smith
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas.|Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
authors.forename: Luis
authors.initials: L
authors.lastname: Rohena
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002872:Chromosome Deletion; D007446:Chromosome Inversion / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D014314:Trisomy / Q000235:genetics / Q000503:physiopathology; D000073839:Trisomy 13 Syndrome / Q000235:genetics* / Q000503:physiopathology
keywords: paracentric inversion; partial trisomy 13; paternal inversion; trisomy 13