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

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

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

  • Publication Type: Article / Article
  • Volume: 2
  • Publication Date: 2009
  • Doi Number: 10.1186/1755-8166-2-14
  • Journal Name: MOLECULAR CYTOGENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Hacettepe University Affiliated: Yes

Abstract

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.