A pure 21q22.3 deletion identified in a patient with mild phenotypic features

Abstract
Partial deletions at the chromosome 21 have been rarely reported and in the majority of descriptions are associated with ring chromosome 21, resulting in terminal deletions of 21q22.3 and a large phenotypic variability (Roberson et al.,2011).

Source: Congenital Anomalies - January 1, 2018 Category: Genetics & Stem Cells Authors: Il ária Cristina Sgardioli, Matheus de Melo Copelli, Elaine Lustosa‐Mendes, Társis Paiva Vieira, Vera Lúcia Gil‐da‐Silva‐Lopes Tags: Note Source Type: research