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, sa.6, ss.613-616, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 6
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.613-616
  • İstanbul Üniversitesi Adresli: Evet

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.