Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

Abstract Background Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndr...

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Bibliographic Details
Main Authors: Luca Lovrecic, Chiara Gnan, Federica Baldan, Alessandra Franzoni, Sara Bertok, Giuseppe Damante, Bertrand Isidor, Borut Peterlin
Format: Article
Language:English
Published: BMC 2018-06-01
Series:Molecular Cytogenetics
Subjects:
2p16.1p15
Molecular karyotyping
Array CGH, microduplication
Duplication
Developmental delay
Macrocephaly
Online Access:http://link.springer.com/article/10.1186/s13039-018-0388-y

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http://link.springer.com/article/10.1186/s13039-018-0388-y

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