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Posted on September 11, 2008

An article in the September 10th New England Journal of Medicine entitled Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes describes the associations between a microdeletion at 1q21.1 and impairments including mental retardation associated with microcephaly, cardiac abnormalities, or cataracts. A microdeletion at 16p11.2 is associated with susceptibility to mental retardation or autism and was discussed in the NEJM in February. In an editorial accompanying the new NEJM study, David H. Ledbetter, Ph.D., of the Department of Human Genetics, Emory University, Atlan...

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autism , cataracts , children , running , schizophrenia