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A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome
Author(s) -
Day R,
Beckett B,
Donnai D,
Fryer A,
Heidenblad M,
Howard P,
Kerr B,
Mansour S,
Maye U,
McKee S,
Mohammed S,
Sweeney E,
Tassabehji M,
De Vries BBA,
ClaytonSmith J
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01087.x
Subject(s) - etiology , cohort , natural history , medicine , pediatrics , cohort study , genetics , biology
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.