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

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

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...

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Bibliographic Details
Main Authors: Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, Marcella V. Mazara, Salvatrice A. Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Italian Journal of Pediatrics
Subjects:
1q21.1 deletion
1q21.1 duplication
Array-CGH
Developmental delay
Dysmorphism
Online Access:http://link.springer.com/article/10.1186/s13052-017-0380-x

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http://link.springer.com/article/10.1186/s13052-017-0380-x

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