Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

  title={Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.},
  author={Meena Balasubramanian and Kath Smith and Lina Basel-Vanagaite and Murray Feingold and Pamela Chase Brock and Gordon C. Gowans and Pradeep C. Vasudevan and Lara Cresswell and Emma J. M. Taylor and Catharine J. Harris and Neil S Friedman and Rocio Moran and Holly A. Feret and E H Zackai and Aaron P Theisen and Jill A Rosenfeld and Michael J. Parker},
  journal={Journal of medical genetics},
  volume={48 5},
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. This article describes seven previously unreported patients with deletions at 2q33… CONTINUE READING