INTERSITIAL DELETION OF 20P - NEW CANDIDATE REGION FOR HIRSCHSPRUNG-DISEASE AND AUTISM

We describe a patient with Hirschsprung disease and autism. High-resol ution karyotyping indicated that the patient has an interstitial delet ion of 20p11.22-p11.23. Microsatellite analysis showed a deletion invo lving a 5-6 cM region from the maternally derived chromosome 20. The d eleted region is proximal to, and does not overlap, the recently chara cterized Alagille syndrome region, This region of 20p has not yet been implicated in Hirschsprung disease or autism, However, this region co ntains several genes that could plausibly contribute to any phenotype that includes abnormal neural development. (C) 1997 Wiley-Liss, Inc.