Literature DB >> 2323091

A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.

J Koch1, S Kølvraa, N Hobolt, G B Petersen, H F Willard, J S Waye, N Gregersen, L Bolund.   

Abstract

A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.

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Year:  1990        PMID： 2323091     DOI： 10.1111/j.1399-0004.1990.tb03505.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.

Authors:  M Guttenbach; J Köhler; M Schmid
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric alpha-satellite sequences.

Authors:  Z Tümer; A Berg; M Mikkelsen
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

3.  Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization.

Authors:  R Plattner; N A Heerema; P N Howard-Peebles; J H Miles; S Soukup; C G Palmer
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

4.  Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes.

Authors:  R Plattner; N A Heerema; Y B Yurov; C G Palmer
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.

Authors:  D F Callen; H J Eyre; G Dolman; M B Garry-Battersby; J R McCreanor; A Valeba; J J McGill
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318
  5 in total

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