Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
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.
van Bever
Yolande
Y
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Rooms
Liesbeth
L
Laridon
Annick
A
Reyniers
Edwin
E
van Luijk
Rob
R
Scheers
Stefaan
S
Wauters
Jan
J
Kooy
R Frank
RF
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*