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

• Autori principali: R. Mishra (Autore), C. S. Paththinige (Autore), N. D. Sirisena (Autore), S. Nanayakkara (Autore), U. G. I. U. Kariyawasam (Autore), V. H. W. Dissanayake (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2018-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract 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...