Literature DB >> 1999835

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

J A Hurst1, P Meinecke, M Baraitser.   

Abstract

A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.

Entities:  

Mesh：

Year:  1991        PMID： 1999835      PMCID： PMC1016750          DOI： 10.1136/jmg.28.1.54

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

Authors:  D J Tomkins; A G Hunter; I A Uchida; M H Roberts
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438

2.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.

Authors:  R A Pagon; J M Graham; J Zonana; S L Yong
Journal:  J Pediatr       Date:  1981-08       Impact factor: 4.406
  2 in total
  7 in total

1.  Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors:  Caitlin L Hale; Adrienne N Niederriter; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802

2.  Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.

Authors:  D Johnson; N Morrison; L Grant; T Turner; J Fantes; J M Connor; V Murday
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

3.  Immune deficiency in CHARGE association.

Authors:  Demetrios S Theodoropoulos
Journal:  Clin Med Res       Date:  2003-01

Review 4.  The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Authors:  Hyung-Goo Kim; Lawrence C Layman
Journal:  Mol Cell Endocrinol       Date:  2011-08-02       Impact factor: 4.102

5.  Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report.

Authors:  Patrick L Donabedian; Jessica Y Walia; Swati Agarwal-Sinha
Journal:  BMC Ophthalmol       Date:  2022-03-04       Impact factor: 2.209

6.  CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

Authors:  Elisa Pisaneschi; Pietro Sirleto; Francesca Romana Lepri; Silvia Genovese; Maria Lisa Dentici; Stefano Petrocchi; Adriano Angioni; Maria Cristina Digilio; Bruno Dallapiccola
Journal:  BMC Med Genet       Date:  2015-09-03       Impact factor: 2.103

7.  Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.

Authors:  Yeonkyung Kim; Ho-Seok Lee; Jung-Seok Yu; Kangmo Ahn; Chang-Seok Ki; Jihyun Kim
Journal:  Korean J Pediatr       Date:  2014-01-31
  7 in total

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