8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

ABSTRACT:

Background

A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7. The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. Increasing dosage of CDH7 was proposed to be responsible for the recurrent pattern of MCA.

Results

High resolution array-CGH analysis identified a 4.2 Mb de novo interstitial duplication of the 8q12.1-q12.3 chromosome region in a boy with developmental delay, dysmorphic features, type 3 Duane anomaly. This duplication includes several genes and spans the SRO.

Discussion

The present case represents a f

SUBMITTER: Baroncini A 

PROVIDER: S-EPMC4176195 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature