In a sporadic case of autism and language deficit due to auditory processing defects, molecular genetic studies revealed that a chromosomal deletion occurred in the 13q12→q13 region. No chromosome abnormalities were detected in the parents. We determined that the deletion occurred on the paternally derived chromosome 13. There are two previous reports of chromosome 13 abnormalities in patients with autism. The deletion in the subject described in this paper maps between the two chromosome 13 linkage peaks described by Bradford et al. (2001) in studies of subjects with autism and language deficits. The 9-Mb region deleted in the patient described here contains at least four genes that are expressed in brain and that play a role in brain development. They are NBEA, MAB21L1, DCAMKL1 and MADH9. These genes therefore represent candidate genes for autism and specific language deficits.

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Previous examples of a very weak form of the antigen A have been described by Weiner, Sanger and Race (1959) and by Moore, Newstead and Johnson (1961). These phenotypes did not fit the categories of A, (Race, 1957), A,,, (Weiner et al. 1957), or A,, and were left unnamed for future christening. A second family in which a similar phenotype is inheritedapparently as a dominant effectis reported here. ResultsThe family tree is shown in figure 1. L. R. (11-3), the propositus is a healthy blood donor who has never had a transfusion. His sister (11-2) and one son (111-1) have an A antigen with similar characteristics. The other members of the family have blood groups with normal serological properties.(1) Agglutination Tests. (a) The anti-A and anti-A+B sera from stimulated donors that were used to test the cells of J. A. [l] were also

The proposita of a Canadian family and 2 of her sibs have the rare Leach phenotype and provide the first evidence that the Leach phenotype is an inherited condition. Their red cells are Ge: -2, -3 and fail to react, by the antiglobulin test, with the monoclonal antibodies GERO, BRIC 4 and BRIC 10. The minor sialoglycoproteins beta, beta 1 and gamma are apparently absent from their red cell membranes. A proportion of their red cells are elliptocytes indicating that beta and/or beta 1 and/or gamma have a function in maintaining normal red cell shape.