Antenatal description of large 4q13.2q21.23 deletion and outcomes.

ABSTRACT:

Background

4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype-phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome.

Methods

We report here the first antenatal history of one of the largest deletion of this region.

Results

Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes in

SUBMITTER: Giguet-Valard AG 

PROVIDER: S-EPMC10864926 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature