Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age.

ABSTRACT:

Background

Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) characterized by growth restriction or Beckwith Wiedemann syndrome (BWS) characterized by overgrowth, respectively.

Case presentation

A child was normally conceived and born by caesarian section to a healthy 19 year old smoking mother (G2P1) at 38 weeks gestation, with SGA (birthweight SDS -2.44), placenta weight 250g (normal histology), with an umbilical hernia and transient neonatal hypoglycemia but no other features of BWS.The methylation status at 11p15 region was initially investigated by multiplex ligation dependent probe amplification (MLPA). Subsequently, meth

SUBMITTER: Murphy R 

PROVIDER: S-EPMC3514203 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature