Disease associated balanced chromosome rearrangements (DBCR): Report of two new cases

V. S. Tonk, H. E. Wyandt, X. Huang, N. Patel, D. L. Morgan, M. Kukolich, L. H. Lockhart, Gopalrao V.N. Velagaleti

Research output: Contribution to journalArticle

8 Scopus citations

Abstract

Disease associated balanced chromosome rearrangements (DBCR) causing truncation, deletion, inactivation or over-expression of specific genes are instrumental in identifying and cloning several disease genes and are estimated to be much more common than anticipated. In one survey, the minimal frequency of combined balanced de novo reciprocal translocations and inversions causing abnormal phenotype is estimated to be 0.17%, a sixfold increase compared to the general population suggesting a causative linkage between the abnormality and the observed phenotypic traits. Here, we report two new cases of apparently balanced de novo translocations resulting in developmental delay and dysmorphic features.

Original languageEnglish (US)
Pages (from-to)37-43
Number of pages7
JournalAnnales de Genetique
Volume46
Issue number1
DOIs
StatePublished - Jan 1 2003

Keywords

  • Autism
  • CCR
  • DBCR
  • Deafness
  • FISH
  • Subtelomere

ASJC Scopus subject areas

  • Genetics

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    Tonk, V. S., Wyandt, H. E., Huang, X., Patel, N., Morgan, D. L., Kukolich, M., Lockhart, L. H., & Velagaleti, G. V. N. (2003). Disease associated balanced chromosome rearrangements (DBCR): Report of two new cases. Annales de Genetique, 46(1), 37-43. https://doi.org/10.1016/S0003-3995(03)00005-4