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

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 dev...

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Détails bibliographiques
Auteurs principaux: Aktas, Dilek, Weise, Anja, Utine, Eda, Alehan, Dursun, Mrasek, Kristin, von Eggeling, Ferdinand, Thieme, Heike, Tuncbilek, Ergul, Liehr, Thomas
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2009
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2715415/
https://ncbi.nlm.nih.gov/pubmed/19566937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-2-14
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