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

✍ Scribed by Michaelis, Ron C.; Skinner, Steven A.; Deason, Rusty; Skinner, Cindy; Moore, C. Lynn; Phelan, Mary C.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 38 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f

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✦ Synopsis

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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