Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.

ABSTRACT:

Background

Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%).

Case presentation

We present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). Methylation and copy number variations at chromosomes 11 and 7 were studied by methylation-specific multiplex ligation-dependent probe amplification and as no alteratio

SUBMITTER: Vado Y 

PROVIDER: S-EPMC6307281 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature