Literature DB >> 7573139

CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

K N North1, B L Wu, B N Cao, D A Whiteman, B R Korf.   

Abstract

We report on a 4-1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3.

Entities:  

Mesh：

Year:  1995        PMID： 7573139     DOI： 10.1002/ajmg.1320570419

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Unilateral semicircular canal aplasia in Goldenhar's syndrome.

Authors:  M M Lemmerling; B D Vanzieleghem; G R Mortier; I J Dhooge; M F Kunnen
Journal:  AJNR Am J Neuroradiol       Date:  2000-08       Impact factor: 3.825

2.  CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Authors:  M C J Jongmans; R J Admiraal; K P van der Donk; L E L M Vissers; A F Baas; L Kapusta; J M van Hagen; D Donnai; T J de Ravel; J A Veltman; A Geurts van Kessel; B B A De Vries; H G Brunner; L H Hoefsloot; C M A van Ravenswaaij
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

Review 3.  CHARGE syndrome: a review of the immunological aspects.

Authors:  Monica T Y Wong; Elisabeth H Schölvinck; Annechien J A Lambeck; Conny M A van Ravenswaaij-Arts
Journal:  Eur J Hum Genet       Date:  2015-02-18       Impact factor: 4.246

Review 4.  Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Authors:  Gabriel E Zentner; Wanda S Layman; Donna M Martin; Peter C Scacheri
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

5.  Immune deficiency in CHARGE association.

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

6.  Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Authors:  Ethan D Sperry; Jane L Schuette; Conny M A van Ravenswaaij-Arts; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2016-02-06       Impact factor: 2.802

7.  Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

Authors:  Seema R Lalani; Arsalan M Safiullah; Susan D Fernbach; Karine G Harutyunyan; Christina Thaller; Leif E Peterson; John D McPherson; Richard A Gibbs; Lisa D White; Margaret Hefner; Sandra L H Davenport; John M Graham; Carlos A Bacino; Nancy L Glass; Jeffrey A Towbin; William J Craigen; Steven R Neish; Angela E Lin; John W Belmont
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025

8.  New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

Authors:  Anna Pichiecchio; Giovanni Vitale; Camilla Caporali; Cecilia Parazzini; Donatella Milani; Maria Paola Recalcati; Laura D'Amico; Sabrina Signorini; Umberto Balottin; Stefano Bastianello
Journal:  BMC Med Genomics       Date:  2018-09-29       Impact factor: 3.063

9.  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
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.