J Med Genet 2001;38:175-178 ( March )

Letters to the editor

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

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EDITORSince the first report by Mankinen et al¹ in 1976, over 30 cases with microscopically visible 1q deletions have been described. Patients with a distal deletion of 1q (q42 or q43qter) have a recognisable pattern of malformations, albeit rather variable.^2 3 The facial features include microcephaly, a full, round face with prominent forehead (sometimes with a metopic ridge), upward slanting palpebral fissures, epicanthic folds, a short, broad nose with a flat nasal bridge, thin lips with downturned corners of the mouth, micrognathia, apparently low set ears, and an abnormal palate (sometimes cleft). Patients are mentally and growth retarded, and may have variable cardiac, genital, and central nervous system anomalies. As most of these features suggest a chromosomal abnormality, patients with a deletion of distal 1q will usually be diagnosed after routine karyotyping. However, for submicroscopic distal 1q deletions, fluorescence in situ hybridisation with a 1qter specific probe will be required . . . [Full text of this article]

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