Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

• Main Authors: Martina Busè (Author), Helenia C. Cuttaia (Author), Daniela Palazzo (Author), Marcella V. Mazara (Author), Salvatrice A. Lauricella (Author), Michela Malacarne (Author), Mauro Pierluigi (Author), Simona Cavani (Author), Maria Piccione (Author)
• Format: Book
• Published: BMC, 2017-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal dupl...