Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

ABSTRACT:

Background

The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17.

Case presentation

The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array compara

SUBMITTER: Stavber L 

PROVIDER: S-EPMC5364691 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature