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- Publisher Website: 10.1002/ajmg.a.31013
- Scopus: eid_2-s2.0-28444485346
- PMID: 16278903
- WOS: WOS:000233756600007
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Article: A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
Title | A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome |
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Authors | |
Keywords | Bone mineral density Cantu syndrome Hypercholesterolemia Hypertrichosis Monosomy 1p36 Recurrent fractures Type II diabetes |
Issue Date | 2005 |
Publisher | John 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? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/170359 |
ISSN | 2023 Impact Factor: 1.7 2023 SCImago Journal Rankings: 0.718 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tan, TY | en_US |
dc.contributor.author | Bankier, A | en_US |
dc.contributor.author | Slater, HR | en_US |
dc.contributor.author | Northrop, EL | en_US |
dc.contributor.author | Zacharin, M | en_US |
dc.contributor.author | Savarirayan, R | en_US |
dc.date.accessioned | 2012-10-30T06:07:46Z | - |
dc.date.available | 2012-10-30T06:07:46Z | - |
dc.date.issued | 2005 | en_US |
dc.identifier.citation | American Journal Of Medical Genetics, 2005, v. 139 A n. 3, p. 216-220 | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170359 | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html | en_US |
dc.relation.ispartof | American Journal of Medical Genetics | en_US |
dc.subject | Bone mineral density | - |
dc.subject | Cantu syndrome | - |
dc.subject | Hypercholesterolemia | - |
dc.subject | Hypertrichosis | - |
dc.subject | Monosomy 1p36 | - |
dc.subject | Recurrent fractures | - |
dc.subject | Type II diabetes | - |
dc.subject.mesh | Abnormalities, Multiple - Genetics - Pathology | en_US |
dc.subject.mesh | Adolescent | en_US |
dc.subject.mesh | Chromosome Disorders - Genetics - Pathology | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 1 - Genetics | en_US |
dc.subject.mesh | Femur - Radiography | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | In Situ Hybridization, Fluorescence | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Monosomy - Genetics - Pathology | en_US |
dc.subject.mesh | Phenotype | en_US |
dc.subject.mesh | Radiography, Thoracic | en_US |
dc.subject.mesh | Skull - Radiography | en_US |
dc.subject.mesh | Spine - Radiography | en_US |
dc.title | A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.email | Tan, TY:tanty@hku.hk | en_US |
dc.identifier.authority | Tan, TY=rp01380 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1002/ajmg.a.31013 | en_US |
dc.identifier.pmid | 16278903 | - |
dc.identifier.scopus | eid_2-s2.0-28444485346 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-28444485346&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 139 A | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.spage | 216 | en_US |
dc.identifier.epage | 220 | en_US |
dc.identifier.isi | WOS:000233756600007 | - |
dc.publisher.place | United States | en_US |
dc.identifier.scopusauthorid | Tan, TY=8567188100 | en_US |
dc.identifier.scopusauthorid | Bankier, A=7101962228 | en_US |
dc.identifier.scopusauthorid | Slater, HR=7006294268 | en_US |
dc.identifier.scopusauthorid | Northrop, EL=6603490930 | en_US |
dc.identifier.scopusauthorid | Zacharin, M=7003745883 | en_US |
dc.identifier.scopusauthorid | Savarirayan, R=7003566196 | en_US |
dc.identifier.issnl | 1552-4825 | - |