Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature

Lucia Ballarati, Anna Cereda, Rossella Caselli, Angelo Selicorni, Maria P. Recalcati, Silvia Maitz, Palma Finelli, Lidia Larizza, Daniela Giardino

Research output: Contribution to journalArticle

Abstract

We describe a 6-year-old boy carrying a de novo 5. Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself.

Original languageEnglish
Pages (from-to)55-59
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume54
Issue number1
DOIs
Publication statusPublished - Jan 2011

Keywords

  • 8p23.1 deletion
  • Cardiac anomalies
  • CdLS
  • TNKS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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