A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

Venkateshwari Ananthapur; Srilekha Avvari; Sujatha Madireddi; Pratibha Nallari; Jyothy Akka

doi:10.1155/2012/813963

Case Reports in Pediatrics (Jan 2012)

A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

Venkateshwari Ananthapur,
Srilekha Avvari,
Sujatha Madireddi,
Pratibha Nallari,
Jyothy Akka

Affiliations

Venkateshwari Ananthapur: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India
Srilekha Avvari: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India
Sujatha Madireddi: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India
Pratibha Nallari: Department of Genetics, Osmania University, Hyderabad 500 007, India
Jyothy Akka: Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad 500 016, India

DOI: https://doi.org/10.1155/2012/813963
Journal volume & issue: Vol. 2012

Abstract

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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.

Published in Case Reports in Pediatrics

ISSN: 2090-6803 (Print); 2090-6811 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Pediatrics
Website: https://onlinelibrary.wiley.com/journal/2920

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