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Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature
Author(s) -
Douglas Chad,
Smith Stephen A.,
Rohena Luis
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38192
Subject(s) - chromosomal inversion , microcephaly , optic nerve hypoplasia , sensorineural hearing loss , partial trisomy , hypoplasia , cataracts , hearing loss , corpus callosum , biology , medicine , genetics , anatomy , karyotype , audiology , chromosome , gene
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.