Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

ABSTRACT:

Background

The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cluster at chromosome 11p15.5-p15.4. While maternal and paternal duplications of the entire cluster consistently result in SRS and BWS, respectively, the phenotypes associated with smaller duplications are difficult to predict due to the complexity of imprinting regulation. Here, we describe two cases with novel inherited partial duplications of the centromeric domain on chromosome 11p15 associated with contrasting growth phenotypes.

Findings

In a male patient affected by intrauterine growth restriction and postnatal short stature, we identified an in cis mater

SUBMITTER: Boonen SE 

PROVIDER: S-EPMC4910218 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature