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, cilt.51, ss.613-616, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 51 Konu: 6
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.613-616

Özet

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.