3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.

ABSTRACT:

Background

Overlapping microdeletions of chromosome 3q26-3q28 have been reported in eight individuals. The common phenotype observed in these individuals include intrauterine growth restriction, short stature, microcephaly, feeding difficulties, facial dysmorphisms, limb abnormalities and developmental delay. The most striking clinical features shared among all reported cases is prenatal and postnatal growth restriction and neurodevelopmental abnormalities.

Case presentation

We identified two additional individuals with overlapping deletions and shared clinical features by high-resolution SNP oligonucleotide microarray, and refined the smallest region of overlap (SRO) to a 1.2 Mb genomic location in chromosome 3q27.1 by reviewing and comparing all published cases. We evaluat

SUBMITTER: Barua S 

PROVIDER: S-EPMC8895857 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature