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Am J Med Genet. 1997 Aug 22;71(3):298-304.

Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?

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Greenwood Genetic Center, South Carolina 29646, USA.


We describe a patient with Hirschsprung disease and autism. High-resolution karyotyping indicated that the patient has an interstitial deletion of 20p11.22-p11.23. Microsatellite analysis showed a deletion involving a 5-6 cM region from the maternally derived chromosome 20. The deleted region is proximal to, and does not overlap, the recently characterized Alagille syndrome region. This region of 20p has not yet been implicated in Hirschsprung disease or autism. However, this region contains several genes that could plausibly contribute to any phenotype that includes abnormal neural development.

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