Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

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• 作者：Bruno Faulin Gamba ; Ant?nio Richieri-Costa ; Silvia Costa…
• 关键词：Complex chromosomal rearrangement ; Multiple congenital anomalies ; Array ; CGH ; Chromothripsis
• 刊名：Molecular Genetics and Genomics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：290
• 期：6
• 页码：2213-2216
• 全文大小：555 KB
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• 作者单位：Bruno Faulin Gamba (1)
  Ant?nio Richieri-Costa (2)
  Silvia Costa (3)
  Carla Rosenberg (3)
  Lucilene Arilho Ribeiro-Bicudo (1) (4)
  
  1. Department of Genetics, Institute of Biosciences, University of S?o Paulo State, Botucatu, SP, Brazil
  2. Syndromology Division, Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of S?o Paulo, Bauru, SP, Brazil
  3. Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of S?o Paulo, S?o Paulo, SP, Brazil
  4. Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiania, GO, Brazil
  
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Life Sciences
  Cell Biology
  Biochemistry
  Microbial Genetics and Genomics
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1617-4623

文摘

Terminal deletion in the short arm of chromosome 1 results in a disorder described as 1p36 deletion syndrome. The resulting phenotype varies among patients including mental retardation, developmental delay, sensorineural hearing loss, seizures, heart defects, and distinct facies. In the present case, we performed array-comparative genomic hybridization in a boy with multiple congenital malformations presenting some features overlapping the 1p36 deletion phenotype for whom chromosomal analysis did not reveal a terminal deletion in 1p. Results showed complex chromosome rearrangements involving the 1p36.33-p35.3 region. While the mechanism of origin of these rearrangements is still unclear, chromothripsis—a single catastrophic event leading to shattering chromosomes or chromosome regions and rejoining of the segments—has been described to occur in a fraction of cancers. The presence of at least 12 clustered breaks at 1p and apparent lack of mosaicism in the present case suggests that a single event like chromothripsis occurred. This finding suggests that chromothripsis is responsible for some constitutive complex chromosome rearrangements. Keywords Complex chromosomal rearrangement Multiple congenital anomalies Array-CGH Chromothripsis