Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

ABSTRACT:

Background

Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the deletion is proximal, beyond the 1p36.32 region. In patients with proximal deletions, little is known about the associated phenotype, since only a few cases have been reported in the literature. Ocular manifestations in patients with classical 1p36 monosomy are frequent and include strabismus, myopia, hypermetropia, and nystagmus. However, as of today only one patient with 1p36 deletion and Duane retraction syndrome (DRS) has been reported.

Case presentation

We describe a patient with intellectual disability, facial dysmorphism, an

SUBMITTER: Yokoyama E 

PROVIDER: S-EPMC7487539 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature