title: Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
abstract: Deletions of the 1q telomere have been reported in several studies screening for subtelomeric rearrangements. However, an adequate clinical description is available from only a few patients. We provide a clinical description of a patient with a subtelomeric deletion of chromosome 1q, previously detected by us in a screening study. Comparison of the clinical presentation of our patient with rare cases reported previously provides further evidence for a specific phenotype of 1q patients, including mental retardation, growth retardation, sometimes with prenatal onset, progressive microcephaly, seizures, hand and foot abnormalities and a variety of midline defects, including corpus callosum, cardiac, genital and gastro-esophageal abnormalities. This clinical presentation is reminiscent of that of patients with larger, microscopically visible deletions of chromosome 1q (>3 Mb) characterized by growth and mental retardation, coarse faces with thin upper lip, epilepsy, and variable other anomalies. In addition, the breakpoint region was mapped to a 26 kb region within the RGS7 gene. Among the 17 known genes in the candidate region, are zinc-finger genes. Other members of this gene family have been implicated in different forms of mental retardation.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Yolande
authors.initials: Y
authors.lastname: van Bever
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Annick
authors.initials: A
authors.lastname: Laridon
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Rob
authors.initials: R
authors.lastname: van Luijk
authors.forename: Stefaan
authors.initials: S
authors.lastname: Scheers
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology; D010641:Phenotype; D016615:Telomere / Q000235:genetics*