Literature DB >> 9706655

Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization.

K Suzumori1, M Tanemura, N Oya, N Suzumori, K C Kim, H Ohashi, Y Fukushima.   

Abstract

Initial approaches to prenatal diagnosis from fetal karyotyping involved application of standard cytogenetic techniques. However, when fetal samples, such as chorionic villus cells or amniocytes are used, small chromosome rearrangements cannot be easily identified because they lack a distinct banding pattern. We report here two cases with minute chromosome rearrangements detected prenatally by fluorescence in situ hybridization. The use of this technique allowed precise identification of fetal chromosome abnormalities, demonstrating its usefulness for characterizing conditions that would be difficult to diagnose correctly with conventional banding methods alone.

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Year:  1998        PMID: 9706655

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  1 in total

Review 1.  Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

Authors:  Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W Innis; Nancy B Spinner; Laird G Jackson; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

  1 in total

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