Chromosome 1q21.1 deletion syndrome is a condition caused by the deletion of a short portion of the long arm (q) of chromosome 1 at a locus called q21.1. The disorder demonstrates a heterogenous spectrum of manifestations including delayed milestones, learning difficulties, physical anomalies, congenital heart disease and both neurological and psychiatric dysfunction; although occasionally the disorder seems to be completely asymptomatic.
- 1. Jesse Christiansen, John D. Dyck, Basil G. Elyas, Margaret Lilley, J. Stephen Bamforth, Mark Hicks, Kathleen A. Sprysak, Robert Tomaszewski, Shelagh M. Haase, Leanne M. Vicen-Wyhony, Martin J. Somerville. Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease. Circulation Research. 94 (11): 1429. doi:10.1161/01.RES.0000130528.72330.5c - Pubmed