A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

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 ge...

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Detalles Bibliográficos
Autores principales: Ananthapur, Venkateshwari, Avvari, Srilekha, Madireddi, Sujatha, Nallari, Pratibha, Akka, Jyothy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3350233/
https://www.ncbi.nlm.nih.gov/pubmed/22606536
http://dx.doi.org/10.1155/2012/813963
Descripción
Sumario: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.

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