Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
Abstract
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 duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay, intellectual disability and autism spectrum...
Paper Details
Title
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
Published Date
Jul 19, 2017
Volume
43
Issue
1
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