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Article: A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

TitleA patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
Authors
Issue Date2005
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Citation
American Journal Of Medical Genetics, 2005, v. 139 A n. 3, p. 216-220 How to Cite?
AbstractWe report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type II diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAG clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions. © 2005 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170359
ISSN
2015 Impact Factor: 2.082
2015 SCImago Journal Rankings: 1.115
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTan, TYen_US
dc.contributor.authorBankier, Aen_US
dc.contributor.authorSlater, HRen_US
dc.contributor.authorNorthrop, ELen_US
dc.contributor.authorZacharin, Men_US
dc.contributor.authorSavarirayan, Ren_US
dc.date.accessioned2012-10-30T06:07:46Z-
dc.date.available2012-10-30T06:07:46Z-
dc.date.issued2005en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 2005, v. 139 A n. 3, p. 216-220en_US
dc.identifier.issn1552-4825en_US
dc.identifier.urihttp://hdl.handle.net/10722/170359-
dc.description.abstractWe report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type II diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAG clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions. © 2005 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.htmlen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.subject.meshAbnormalities, Multiple - Genetics - Pathologyen_US
dc.subject.meshAdolescenten_US
dc.subject.meshChromosome Disorders - Genetics - Pathologyen_US
dc.subject.meshChromosomes, Human, Pair 1 - Geneticsen_US
dc.subject.meshFemur - Radiographyen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshMaleen_US
dc.subject.meshMonosomy - Genetics - Pathologyen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshRadiography, Thoracicen_US
dc.subject.meshSkull - Radiographyen_US
dc.subject.meshSpine - Radiographyen_US
dc.titleA patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndromeen_US
dc.typeArticleen_US
dc.identifier.emailTan, TY:tanty@hku.hken_US
dc.identifier.authorityTan, TY=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/ajmg.a.31013en_US
dc.identifier.pmid16278903-
dc.identifier.scopuseid_2-s2.0-28444485346en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-28444485346&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume139 Aen_US
dc.identifier.issue3en_US
dc.identifier.spage216en_US
dc.identifier.epage220en_US
dc.identifier.isiWOS:000233756600007-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridTan, TY=8567188100en_US
dc.identifier.scopusauthoridBankier, A=7101962228en_US
dc.identifier.scopusauthoridSlater, HR=7006294268en_US
dc.identifier.scopusauthoridNorthrop, EL=6603490930en_US
dc.identifier.scopusauthoridZacharin, M=7003745883en_US
dc.identifier.scopusauthoridSavarirayan, R=7003566196en_US

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