Article
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
American journal of medical genetics. Part A - 1 Jun 2011
Burkardt Deepika D'Cunha, Rosenfeld Jill A, Helgeson Maria L, Angle Brad, Banks Valerie, Smith Wendy E, Gripp Karen W, Moline Jessica, Moran Rocio T, Niyazov Dmitriy M, Stevens Cathy A, Zackai Elaine, Lebel Robert Roger, Ashley Douglas G, Kramer Nancy, Lachman Ralph S, Graham John M
Abstract excerpt
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...
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