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Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cas...

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Dades bibliogràfiques
Publicat a:BMC Pediatr
Autors principals: Mishra, R., Paththinige, C. S., Sirisena, N. D., Nanayakkara, S., Kariyawasam, U. G. I. U., Dissanayake, V. H. W.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5759277/
https://ncbi.nlm.nih.gov/pubmed/29310616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-017-0980-z
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