Wessex Imprinting Group, Human Genetics Division, University of Southampton and Wessex Genetics Service; Salisbury and Southampton

We are conducting a pilot research project to determine the impact of widespread imprinting aberrations in human disorders.
We are recruiting patients with possible or definite imprinting disorders (due to methylation loss or gain at an imprinted loci)

including Silver Russell syndrome, Transient Neonatal diabetes, Beckwith Wiedemann syndrome, Angelman syndrome Prader Willi syndrome, UPD 14 syndromes and Pseudohypoparathyroidism.

Call us or email to recruit patients. Study patients will have epigenetic testing at multiple imprinted loci to determine if this is contributing to the phenotype.
This project has been reviewed at the Southampton and South West Hampshire Research Ethics Committee A. The ethics approval number is 07/H0502/85

Principle investigators

Useful Documents

Consent Forms Assent form for children (29KB) Consent for adult participants (41KB) Consent for patients and guardians (41KB)   Patient Information Sheets Patient information for adults or parents with imprinting disorders (45KB) Patient information sheet aimed at children (34KB) Patient information for adults or parents of unknowns (43KB)

Invitation letters Invitation letter to adult participant with imprinting syndromes (35KB) Invitation letter to adult participant with possible imprinting syndromes (35KB) Invitation letter to children with unknown syndrome (28KB) Invitation letter to parents of children with imprinting syndromes (35KB) Invitation letter to parents of children with possible imprinting syndromes (35KB)   Questionnaire for participating doctors Questionnaire online final (78KB)