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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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Detalles Bibliográficos
Autores principales:	Aktas, Dilek, Weise, Anja, Utine, Eda, Alehan, Dursun, Mrasek, Kristin, von Eggeling, Ferdinand, Thieme, Heike, Tuncbilek, Ergul, Liehr, Thomas
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2715415/ https://www.ncbi.nlm.nih.gov/pubmed/19566937 http://dx.doi.org/10.1186/1755-8166-2-14

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