Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

  title={Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.},
  author={Deepika D'Cunha Burkardt and Jill A Rosenfeld and Maria L Helgeson and Brad Angle and Valerie C. Banks and Wendy Smith and Karen W. Gripp and Jessica J. Moline and Rocio T Moran and Dmitriy M. Niyazov and Cathy A Stevens and Elaine Zackai and Robert Roger Lebel and Douglas G Ashley and Nancy A. Kramer and Ralph S. Lachman and J. M. Graham},
  journal={American journal of medical genetics. Part A},
  volume={155A 6},
Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals with 1q24q25 deletions, who show distinctive features of a clinically recognizable 1q24q25 microdeletion syndrome: prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse… CONTINUE READING
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