title: A dysmorphic child with a pericentric inversion of chromosome 8.
abstract: An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.
authors.affiliation: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India.
authors.forename: Venkateshwari
authors.initials: V
authors.lastname: Ananthapur
authors.forename: Srilekha
authors.initials: S
authors.lastname: Avvari
authors.forename: Sujatha
authors.initials: S
authors.lastname: Madireddi
authors.forename: Pratibha
authors.initials: P
authors.lastname: Nallari
authors.forename: Jyothy
authors.initials: J
authors.lastname: Akka