M Heidenblad

Publications (1)3.13 Total impact

• Article: A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

  R Day, B Beckett, D Donnai, A Fryer, M Heidenblad, P Howard, B Kerr, S Mansour, U Maye, S McKee, S Mohammed, E Sweeney, M Tassabehji, B B A de Vries, J Clayton-Smith
  [show abstract] [hide abstract]
  ABSTRACT: We report a series of eight patients with the Say/Barber/Biesecker/Young-Simpson (SBBYS) type of Ohdo syndrome, which is the largest cohort described to date. We expand on the type, frequency and severity of the clinical characteristics in this condition; comment on the natural history of Ohdo syndrome and further refine previously published diagnostic criteria. Cytogenetic investigations and microarray CGH analysis undertaken in this cohort of patients failed to identify a chromosomal aetiology. It remains possible that this rare condition is heterogeneous and therefore caution must be undertaken during counselling until the underlying genetic mechanism(s) is (are) identified.
  Clinical Genetics 10/2008; 74(5):434-44. · 3.13 Impact Factor