Literature DB >> 9268100

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

R C Michaelis1, S A Skinner, R Deason, C Skinner, C L Moore, M C Phelan.   

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.

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Year:  1997        PMID： 9268100     DOI： 10.1002/(sici)1096-8628(19970822)71:3<298::aid-ajmg10>3.0.co;2-f

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Synaptosome-Associated Protein 25 (SNAP25) Gene Association Analysis Revealed Risk Variants for ASD, in Iranian Population.

Authors:  Mohammad Reza Safari; Mir Davood Omrani; Rezvan Noroozi; Arezou Sayad; Shaghayegh Sarrafzadeh; Alireza Komaki; Fateme Asadzadeh Manjili; Mehrdokht Mazdeh; Ali Ghaleiha; Mohammad Taheri
Journal:  J Mol Neurosci       Date:  2016-11-26       Impact factor: 3.444

2.  SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Authors:  Binita M Kamath; Brian D Thiel; Xiaowu Gai; Laura K Conlin; Pedro S Munoz; Joseph Glessner; Dinah Clark; Daniel M Warthen; Tamim H Shaikh; Ercan Mihci; David A Piccoli; Struan F A Grant; Hakon Hakonarson; Ian D Krantz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

3.  Presence of large deletions in kindreds with autism.

Authors:  Chang-En Yu; Geraldine Dawson; Jeffrey Munson; Ian D'Souza; Julie Osterling; Annette Estes; Anne-Louise Leutenegger; Pamela Flodman; Moyra Smith; Wendy H Raskind; M Anne Spence; William McMahon; Ellen M Wijsman; Gerard D Schellenberg
Journal:  Am J Hum Genet       Date:  2002-06-07       Impact factor: 11.025

Review 4.  Molecular genetics of autism spectrum disorders.

Authors:  Barkur S Shastry
Journal:  J Hum Genet       Date:  2003-09-11       Impact factor: 3.172

5.  Parent-of-origin effects in autism identified through genome-wide linkage analysis of 16,000 SNPs.

Authors:  Delphine Fradin; Keely Cheslack-Postava; Christine Ladd-Acosta; Craig Newschaffer; Aravinda Chakravarti; Dan E Arking; Andrew Feinberg; M Daniele Fallin
Journal:  PLoS One       Date:  2010-09-02       Impact factor: 3.240
  5 in total

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