Literature DB >> 2369839

Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p.

J G Dauwerse1, T Kievits, G C Beverstock, D van der Keur, E Smit, H W Wessels, A Hagemeijer, P L Pearson, G J van Ommen, M H Breuning.   

Abstract

The pericentric inversion of chromosome 16 characteristic for acute nonlymphocytic leukemia, subtype M4, was detected in five patients by means of nonradioactive in situ hybridization of complete cosmids. First, five cosmids situated along the short arm of chromosome 16 were used to map the breakpoint of the inversion distal to the rare folate-sensitive fragile site FRA16A. Then, the use of two cosmids on either side of the breakpoint, combined with a probe specific for the centromeric region of chromosome 16, readily detected the inversion, even in poor metaphase spreads.

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Year:  1990        PMID: 2369839     DOI: 10.1159/000132911

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  7 in total

1.  Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Authors:  M H Breuning; H G Dauwerse; G Fugazza; J J Saris; L Spruit; H Wijnen; N Tommerup; C B van der Hagen; K Imaizumi; Y Kuroki; M J van den Boogaard; J M de Pater; E C Mariman; B C Hamel; H Himmelbauer; A M Frischauf; R Stallings; G C Beverstock; G J van Ommen; R C Hennekam
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025

Review 2.  Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

Authors:  E J Breslau-Siderius; J T Wijnen; J G Dauwerse; J M de Pater; F A Beemer; P M Khan
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

Review 3.  Detection of genomic changes in cancer by in situ hybridization.

Authors:  A H Hopman; C E Voorter; F C Ramaekers
Journal:  Mol Biol Rep       Date:  1994-01       Impact factor: 2.316

4.  Trisomy 21 as the sole clonal aberration in a patient with acute myelomonocytic leukemia with abnormal bone marrow eosinophils and extramedullary involvement.

Authors:  R Dengler; J U Walther; B Emmerich
Journal:  Ann Hematol       Date:  1994-02       Impact factor: 3.673

5.  Identification of copy number variants associated with BPES-like phenotypes.

Authors:  Antoinet C J Gijsbers; Barbara D'haene; Yvonne Hilhorst-Hofstee; Marcel Mannens; Beate Albrecht; Joerg Seidel; David R Witt; Melissa K Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H Breuning; Elfride De Baere; Claudia A L Ruivenkamp
Journal:  Hum Genet       Date:  2008-10-25       Impact factor: 4.132

6.  Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

Authors:  A Kuwano; S A Ledbetter; W B Dobyns; B S Emanuel; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

7.  A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Authors:  Antoinet C J Gijsbers; Janet Y K Lew; Cathy A J Bosch; Janneke H M Schuurs-Hoeijmakers; Arie van Haeringen; Nicolette S den Hollander; Sarina G Kant; Emilia K Bijlsma; Martijn H Breuning; Egbert Bakker; Claudia A L Ruivenkamp
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246

  7 in total

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