A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly

Karaman B., Rosti R. O., Yilmaz K., Ozturk H., Kayserili H., Basaran S.

TURKISH JOURNAL OF PEDIATRICS, vol.51, no.6, pp.613-616, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 6
  • Publication Date: 2009
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.613-616
  • Istanbul University Affiliated: Yes

Abstract

We report herein a case with dysmorphic features, polysyndactyly and psychomotor mental retardation, who had an apparently balanced de novo translocation between chromosomes 8 and 13 as well as a de novo insertion within chromosome 2 itself.