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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
Tan, TYBankier, ASlater, HRNorthrop, ELZacharin, MSavarirayan, R
KeywordsBone mineral density
Cantu syndrome
Hypercholesterolemia
Hypertrichosis
Monosomy 1p36
Recurrent fractures
Type II diabetes
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?
DOI: http://dx.doi.org/10.1002/ajmg.a.31013
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
1552-4825
2021 Impact Factor: 2.578
2020 SCImago Journal Rankings: 1.064
ISI Accession Number ID
WOS:000233756600007
References
References in Scopus

 

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.subjectBone mineral density-
dc.subjectCantu syndrome-
dc.subjectHypercholesterolemia-
dc.subjectHypertrichosis-
dc.subjectMonosomy 1p36-
dc.subjectRecurrent fractures-
dc.subjectType II diabetes-
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
dc.identifier.issnl1552-4825-

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