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Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
  1. S Ben-Shachar
  1. Baylor College of Medicine, United States
    1. B Lanpher
    1. Vanderbilt University, United States
      1. J R German
      1. Baylor College of Medicine, United States
        1. M Qasaymeh
        1. University of Rochester, United States
          1. L Potocki
          1. Baylor College of Medicine, United States
            1. S Nagamani
            1. Baylor College of Medicine, United States
              1. L M Franco
              1. Baylor College of Medicine, United States
                1. A Malphrus
                1. Baylor College of Medicine, United States
                  1. G W Bottenfield
                  1. Brazosport Pediatric Clinic, United States
                    1. J E Spence
                    1. Levine Children's Hospital, United States
                      1. S Amato
                      1. Tufts Univ Med Center, United States
                        1. J A Rousseau
                        1. University of California, Davis, United States
                          1. B Moghaddam
                          1. Tufts University Coll of Med, United States
                            1. C Skinner
                            1. Greenwood Genetic Center, United States
                              1. S A Skinner
                              1. Greenwood Genetic Center, United States
                                1. S Bernes
                                1. Phoenix Children's Hospital, United States
                                  1. N Armstrong
                                  1. St. Louis Children's Hospital, United States
                                    1. M Shinawi
                                    1. Baylor College of Medicine, United States
                                      1. P Stankiewicz
                                      1. Baylor College of Medicine, United States
                                        1. A Patel
                                        1. Baylor College of Medicine, United States
                                          1. S W Cheung
                                          1. Baylor College of Medicine, United States
                                            1. J R Lupski
                                            1. Baylor College of Medicine, United States
                                              1. A L Beaudet (abeaudet{at}bcm.tmc.edu)
                                              1. Baylor College of Medicine, United States
                                                1. T Sahoo
                                                1. Baylor College of Medicine, United States

                                                  Abstract

                                                  Background: Microdeletions within chromosome 15q13.3 are associated both with a recently recognized syndrome of mental retardation, seizures, and dysmorphic features and with schizophrenia.

                                                  Methods and results: Based on routine diagnostic testing of ~8,200 samples using array comparative genomic hybridization, we identified 20 individuals (14 children and 6 parents in 12 families) with microdeletions of 15q13.3. Phenotypes in the children included developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems. Both parents were available in seven families, and the deletion was de novo in one, inherited from an apparently normal parent in four, and inherited from a parent with learning disability and bipolar disorder in two families. Of the 14 children, 6 in 5 families were adopted, and DNA was available for only 1 of these 10 biological parents; the deletion was very likely inherited for one of these families with two affected children. Among the unavailable parents, two mothers were described as having mental retardation, another mother as having “mental illness,” and one father as having schizophrenia. We hypothesize that some of the unavailable parents have the deletion. Conclusions. The occurrence of increased adoption, frequent autism, bipolar disorder, and lack of penetrance are noteworthy findings in individuals with deletion 15q13.3. A high rate of adoption may be related to the presence of the deletion in biological parents. Unconfirmed histories of antisocial behaviours in unavailable biological parents raise the concern that future research may show that deletion 15q13.3 is associated with such behaviours.

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