14q32.3-qter trisomic segment: a case report and literature review

BACKGROUND: Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes. CASE PRESENTATION: We report the clinical and gen...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Cytogenet
Päätekijät: Villa, Nicoletta, Scatigno, Agnese, Redaelli, Serena, Conconi, Donatella, Cianci, Paola, Farina, Clotilde, Fossati, Chiara, Dalprà, Leda, Maitz, Silvia, Selicorni, Angelo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974715/
https://ncbi.nlm.nih.gov/pubmed/27499811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0265-5
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