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


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

MOLECULAR CYTOGENETICS, cilt.2, 2009 (SCI İndekslerine Giren Dergi) 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

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.