Literature DB >> 22606536

A dysmorphic child with a pericentric inversion of chromosome 8.

Venkateshwari Ananthapur1, Srilekha Avvari, Sujatha Madireddi, Pratibha Nallari, Jyothy Akka.   

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.

Entities:  

Year:  2012        PMID： 22606536      PMCID： PMC3350233          DOI： 10.1155/2012/813963

Source DB:  PubMed          Journal:  Case Rep Pediatr


  10 in total

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Journal:  Clin Genet       Date:  1989-10       Impact factor: 4.438

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Journal:  Am J Hum Genet       Date:  1976-05       Impact factor: 11.025

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Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

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Authors:  T M Williams; T S McConnell; F Martinez; A C Smith; E Sujansky
Journal:  Hum Pathol       Date:  1984-11       Impact factor: 3.466

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Journal:  Ann Genet       Date:  1980

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Authors:  A de la Chapelle; J Schröder; K Stenstrand; J Fellman; R Herva; M Saarni; I Anttolainen; I Tallila; L Tervilä; L Husa; G Tallqvist; E B Robson; P J Cook; R Sanger
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

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Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  10 in total

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