Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Creative Commons License

Aktas D., Weise A., Utine E., ALEHAN D., Mrasek K., von Eggeling F., ...Daha Fazla

MOLECULAR CYTOGENETICS, cilt.2, 2009 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1186/1755-8166-2-14
  • Dergi Adı: MOLECULAR CYTOGENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features. We report on a patient with various clinical malformations and developmental delay in connection with an inverted duplication event, involving chromosome 8p.