Researchers have discovered a submicroscopic aberration in a particular region of human chromosome 1q21.1 that appears to be associated with a variety of developmental disorders in children. The aberration can manifest itself as unexplained mild or moderate mental retardation, growth retardation, learning disabilities, seizures, autism, heart defects, other congenital abnormalities, cataracts, small head size, unusual facial features, hand deformities, or skeletal problems. Some people who have the aberration are only slightly affected or apparently unaffected, others are more seriously impaired.
The multinational research was led by Dr. Heather C. Mefford, acting assistant professor of pediatrics at the University of Washington, and Dr. Andrew J. Sharp of the University of Geneva Medical School in Switzerland. Mefford practices medical genetics at Children's Hospital and Regional Medical Center in Seattle and the UW Medical Center Medical Genetics Clinic.
The results will be published in the Sept. 11 New England Journal of Medicine in an article titled, "Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes." The results are discussed in an accompanying editorial by David H. Ledbetter of Emory University in Atlanta.
Deletions and duplications of major sections of the human genome have long been known to cause disease or make a person susceptible to disease. Recent technological advances, called cytogenetic arrays, are enabling scientists to test large numbers of people to determine the presence or absence of submicroscopic imbalances in small sections of their chromosomes.
Using these new advances, the researchers checked for the presence of microdeletions and microduplications in a specific region of chromosome 1q21.1 in groups of patients with unexplained mental retardation, autism, or congenital abnormalities, and compared their findings with similar testing of a group from the general po
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University of Washington