Literature DB >> 10980571

High resolution comparative genomic hybridisation analysis reveals imbalances in dyschromosomal patients with normal or apparently balanced conventional karyotypes.

M Kirchhoff1, H Rose, J Maahr, T Gerdes, M Bugge, N Tommerup, Z Tümer, J Lespinasse, P K Jensen, J Wirth, C Lundsteen.   

Abstract

A sensitive technique is needed for screening whole genome imbalances in dyschromosomal patients when G-banding shows normal karyotypes or apparently balanced translocations. In this study we performed highly sensitive comparative genomic hybridisation analysis on a number of such cases and revealed chromosomal imbalances in all.

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Year:  2000        PMID： 10980571     DOI： 10.1038/sj.ejhg.5200512

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  6 in total

1.  High resolution comparative genomic hybridisation in clinical cytogenetics.

Authors:  M Kirchhoff; H Rose; C Lundsteen
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

2.  The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes.

Authors:  S M Gribble; E Prigmore; D C Burford; K M Porter; Bee Ling Ng; E J Douglas; H Fiegler; P Carr; D Kalaitzopoulos; S Clegg; R Sandstrom; I K Temple; S A Youings; N S Thomas; N R Dennis; P A Jacobs; J A Crolla; N P Carter
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

3.  Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.

Authors:  J J Cox; S T Holden; S Dee; J I Burbridge; F L Raymond
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

4.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

5.  A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.

Authors:  Sandra Anna Becker; Susanne Popp; Klaus Rager; Anna Jauch
Journal:  Eur J Pediatr       Date:  2003-02-19       Impact factor: 3.183

6.  Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Authors:  Morten Dunø; Hanne Hove; Maria Kirchhoff; Koenraad Devriendt; Marianne Schwartz
Journal:  Hum Genet       Date:  2004-09-18       Impact factor: 4.132
  6 in total

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