Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

doi:10.1016/j.ejmg.2011.05.001

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Article

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

European journal of medical genetics - 1 Jan 2000

Houeijeh Ali, Andrieux Joris, Saugier-Veber Pascale, David Albert, Goldenberg Alice, Bonneau Dominique, Fouassier Marc, Journel Hubert, Martinovic Jelana, Escande Fabienne, Devisme Louise, Bisiaux Sophie, Chaffiotte Caroline, Baux Mathilde, Kerckaert Jean-Pierre, Holder-Espinasse Muriel, Manouvrier-Hanu Sylvie

Abstract excerpt

Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of our patients. We gathered information on 14 patients...

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PMID: 21635976
DOI: 10.1016/j.ejmg.2011.05.001

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