Literature DB >> 15517822

De novo complex chromosome rearrangement: a study of two patients.

D G Melo1, J Huber, L R Giuliani, L F Mazzucatto, M Riegel, J M Pina-Neto.   

Abstract

Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced de novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently balanced de novo rearrangement involving chromosomes 2, 7 and 13. The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.

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Year:  2004        PMID: 15517822

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.

Authors:  Natalia Trpchevska; Ivanka Dimova; Tatyana Arabadji; Tanya Milachich; Svetlana Angelova; Magdalena Dimitrova; Mariela Hristova-Savova; Petya Andreeva; Tania Timeva; Atanas Shterev
Journal:  J Assist Reprod Genet       Date:  2017-02-24       Impact factor: 3.412

  1 in total

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