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. 2008 Nov;74(5):434-44.
doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.

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

R Day  1 , 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
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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

R Day et al. Clin Genet. 2008 Nov.

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.

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