Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Author:

Aristidou Constantia,Koufaris Costas,Theodosiou Athina,Bak Mads,Mehrjouy Mana M.,Behjati Farkhondeh,Tanteles George,Christophidou-Anastasiadou Violetta,Tommerup Niels,Sismani CarolinaORCID

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference57 articles.

1. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints;D Warburton;Am J Hum Genet,1991

2. Prenatally diagnosed balanced chromosome rearrangements: eight years’ experience;HH Peng;J Reprod Med,2006

3. On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966–1991;JP Fryns;Genet Couns,1991

4. “Balanced” karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents;SL Wenger;Am J Med Genet,1995

5. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity;PC Patsalis;Eur J Hum Genet,2004

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