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

Abstract excerpt

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 duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, developmental delay,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to Child