Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion

BACKGROUND: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplicati...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Cytogenet
Päätekijät: Kurtulgan, Hande Küçük, Özer, Leyla, Yıldırım, Malik Ejder, Ünsal, Evrim, Aktuna, Süleyman, Baltacı, Volkan, Akkuş, Nejmiye, Sezgin, İlhan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2015
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654821/
https://ncbi.nlm.nih.gov/pubmed/26594242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0195-7
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