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Article

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

American journal of medical genetics - 22 Aug 1997

Michaelis R C, Skinner S A, Deason R, Skinner C, Moore C L, Phelan M C

Abstract excerpt

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...

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Identifiers

PMID: 9268100
DOI: 10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f

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Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?PMID 9268100Read ↗

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