Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

ABSTRACT:

Background

Several patients with the 2p16.1p15 microdeletion syndrome have been reported. However, microduplication in the 2p16.1p15 chromosomal region has only been reported in one case, and milder clinical features were present compared to those attributed to 2p16.1p15 microdeletion syndrome. Some additional cases were deposited in DECIPHER database.

Case presentation

In this report we describe four further cases of 2p16.1p15 microduplication in four unrelated probands. They presented with mild gross motor delay, delayed speech and language development, and mild dysmorphic features. In addition, two probands have macrocephaly and one a congenital heart anomaly. Newly described cases share several phenotype characteristics with those detailed in one previously reported micr

SUBMITTER: Lovrecic L 

PROVIDER: S-EPMC6011332 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature