A Dysmorphic Child with a Pericentric Inversion of Chromosome 8. (8th February 2012)

• Record Type: Journal Article
• Authors: Ananthapur, Venkateshwari; Avvari, Srilekha; Madireddi, Sujatha; Nallari, Pratibha; Akka, Jyothy
• Other Names: Czkwianianc E. Academic Editor.; Scaramuzza A. E. Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2012(2012)
• Publication Date: 2012-02-08
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2012/813963
• Languages: English
• ISSNs: 2090-6803

Abstract

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.