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(1987)
Diagnostic and Statistical Manual of Mental Disorders
- Publisher
- Wiley
- Copyright
- Copyright © 1997 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F
- Publisher site
- See Article on Publisher Site
Abstract
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. Am. J. Med. Genet. 71:298–304, 1997. © 1997 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Oct 22, 1998
Keywords: ; ; ; ;