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Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
Author(s) -
van Bever Yolande,
Rooms Liesbeth,
Laridon Annick,
Reyniers Edwin,
van Luijk Rob,
Scheers Stefaan,
Wauters Jan,
Kooy R. Frank
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30695
Subject(s) - microcephaly , subtelomere , breakpoint , corpus callosum , genetics , biology , phenotype , epilepsy , growth retardation , chromosome , gene , medicine , anatomy , neuroscience , pregnancy
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 remniscent 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. © 2005 Wiley‐Liss, Inc.