Dear Sir, dear madam, I am working in the field of 4p- syndromes, especially Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) to delineate the critical gene region of these syndromes. For both syndromes the patients have characteristic facial anomalies like widely spaced eyes, low set ears and a cleft lip/palate. They always are mentally retarded due to brain malformation, microcephaly and severe pre- and postnatal growth retardation. Both syndromes are caused by subtelomeric deletions of 4p16.3.
I am looking for patient material of patients with either no deletion (not visible with the common cytogenetic methods) with a WHS or PRDS phenotype, WHS/PRDS patients with small deletions, but also patients with a WHS/PRDS phenotype due to an unbalanced (or balanced) translocation where one of the breakpoints could be (likely) inbetween the critical gene region of WHS/PRDS.
Thank you very much.