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Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review

1994; Wiley; Volume: 52; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320520107

1096-8628

M. Shapira, Zvi Borochowitz, Hanna Bar‐El, Hanna Dar, Amos Etzioni, Avraham Lorber,

Prenatal Screening and Diagnostics

Since the first description by Elliot et al. [1970, Am J Dis Child 119:72-73] of a probable partial deletion of chromosome 10p, 17 other cases have been reported. The phenotypic expression is variable, but the craniofacial malformations constitute a more consistent finding. The 10p deletion syndrome has been associated with the DiGeorge anomaly in several patients. We report on an additional case of 10p deletion syndrome and review the literature.